NACA — 158 ClinVar variants
All ClinVar germline NACA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
4 Benign · 28 Likely benign · 126 Uncertain significance
Full NACA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 114
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NACA p.Ala152Val Uncertain significance Single submitter
- NACA p.Ala1803Pro Uncertain significance Single submitter
- NACA p.Ala1833Val Uncertain significance Single submitter
- NACA p.Ala1868Val Uncertain significance Single submitter
- NACA p.Ala348Ser Uncertain significance Single submitter
- NACA p.Ala372Val Uncertain significance Single submitter
- NACA p.Ala450Thr Uncertain significance Single submitter
- NACA p.Ala588Pro Uncertain significance Single submitter
- NACA p.Ala64Val Uncertain significance Single submitter
- NACA p.Ala663Asp Uncertain significance Single submitter
- NACA p.Arg1934Trp Uncertain significance Single submitter
- NACA p.Arg1940Gln Uncertain significance Single submitter
- NACA p.Arg1960Gln Uncertain significance Single submitter
- NACA p.Asn1861Ser Uncertain significance Single submitter
- NACA p.Asp342Glu Uncertain significance Single submitter
- NACA p.Asp654Glu Uncertain significance Single submitter
- NACA p.Cys49Phe Uncertain significance Single submitter
- NACA p.Cys49Ser Uncertain significance Single submitter
- NACA p.Gln281Leu Uncertain significance Single submitter
- NACA p.Gln40Glu Uncertain significance Single submitter
- NACA p.Gln40His Uncertain significance Single submitter
- NACA p.Glu1779Lys Uncertain significance Single submitter
- NACA p.Glu581Gly Uncertain significance Single submitter
- NACA p.Glu597Ala Uncertain significance Single submitter
- NACA p.Gly1822Val Uncertain significance Single submitter
- NACA p.Gly324Cys Uncertain significance Single submitter
- NACA p.Gly541Arg Uncertain significance Single submitter
- NACA p.Gly657Arg Uncertain significance Single submitter
- NACA p.His343Arg Uncertain significance Single submitter
- NACA p.His343Leu Uncertain significance Single submitter
- NACA p.Ile107Val Uncertain significance Single submitter
- NACA p.Ile1849Val Uncertain significance Single submitter
- NACA p.Ile1969Val Uncertain significance Single submitter
- NACA p.Ile388Val Uncertain significance Single submitter
- NACA p.Ile503Met Uncertain significance Single submitter
- NACA p.Leu118Val Uncertain significance Single submitter
- NACA p.Leu1802Phe Uncertain significance Single submitter
- NACA p.Leu1843Val Uncertain significance Single submitter
- NACA p.Leu1859Pro Uncertain significance Single submitter
- NACA p.Leu278Pro Uncertain significance Single submitter
- NACA p.Leu322Val Uncertain significance Single submitter
- NACA p.Leu45His Uncertain significance Single submitter
- NACA p.Lys128Arg Uncertain significance Single submitter
- NACA p.Lys1780Asn Uncertain significance Single submitter
- NACA p.Lys1784Gln Uncertain significance Single submitter
- NACA p.Lys1878Glu Uncertain significance Single submitter
- NACA p.Lys190Glu Uncertain significance Single submitter
- NACA p.Lys2007Asn Uncertain significance Single submitter
- NACA p.Lys516Arg Uncertain significance Single submitter
- NACA p.Lys530Thr Uncertain significance Single submitter
- NACA p.Met28Leu Uncertain significance Single submitter
- NACA p.Pro154Arg Uncertain significance Single submitter
- NACA p.Pro1783Arg Uncertain significance Single submitter
- NACA p.Pro1783Thr Uncertain significance Single submitter
- NACA p.Pro17Leu Uncertain significance Single submitter
- NACA p.Pro181Leu Uncertain significance Single submitter
- NACA p.Pro1845Ser Uncertain significance Single submitter
- NACA p.Pro1846Leu Uncertain significance Single submitter
- NACA p.Pro184Gln Uncertain significance Single submitter
- NACA p.Pro298Ser Uncertain significance Single submitter
- NACA p.Pro299Arg Uncertain significance Single submitter
- NACA p.Pro299Thr Uncertain significance Single submitter
- NACA p.Pro368Ala Uncertain significance Single submitter
- NACA p.Pro368Ser Uncertain significance Single submitter
- NACA p.Pro385Leu Uncertain significance Single submitter
- NACA p.Pro43Ser Uncertain significance Single submitter
- NACA p.Pro446His Uncertain significance Single submitter
- NACA p.Pro47Ser Uncertain significance Single submitter
- NACA p.Pro487Arg Uncertain significance Single submitter
- NACA p.Pro504Ser Uncertain significance Single submitter
- NACA p.Pro508Leu Uncertain significance Single submitter
- NACA p.Pro510Leu Uncertain significance Single submitter
- NACA p.Pro512His Uncertain significance Single submitter
- NACA p.Pro571Thr Uncertain significance Single submitter
- NACA p.Pro655Ser Uncertain significance Single submitter
- NACA p.Ser120Thr Uncertain significance Single submitter
- NACA p.Ser1827Leu Uncertain significance Single submitter
- NACA p.Ser1857Leu Uncertain significance Single submitter
- NACA p.Ser263Gly Uncertain significance Single submitter
- NACA p.Ser271Asn Uncertain significance Single submitter
- NACA p.Ser288Tyr Uncertain significance Single submitter
- NACA p.Ser29Cys Uncertain significance Single submitter
- NACA p.Ser380Cys Uncertain significance Single submitter
- NACA p.Ser389Cys Uncertain significance Single submitter
- NACA p.Ser390Thr Uncertain significance Single submitter
- NACA p.Ser418Cys Uncertain significance Single submitter
- NACA p.Ser545Cys Uncertain significance Single submitter
- NACA p.Ser75Leu Uncertain significance Single submitter
- NACA p.Thr1874Ala Uncertain significance Single submitter
- NACA p.Thr249Ala Uncertain significance Single submitter
- NACA p.Thr297Pro Uncertain significance Single submitter
- NACA p.Thr403Ala Uncertain significance Single submitter
- NACA p.Thr403Ile Uncertain significance Single submitter
- NACA p.Thr403Pro Uncertain significance Single submitter
- NACA p.Thr454Ala Uncertain significance Single submitter
- NACA p.Thr461Ala Uncertain significance Single submitter
- NACA p.Thr500Ser Uncertain significance Single submitter
- NACA p.Thr528Ser Uncertain significance Single submitter
- NACA p.Thr552Ile Uncertain significance Single submitter
- NACA p.Thr589Ile Uncertain significance Single submitter
- NACA p.Tyr350Cys Uncertain significance Single submitter
- NACA p.Tyr425Cys Uncertain significance Single submitter
- NACA p.Val172Ala Uncertain significance Single submitter
- NACA p.Val1853Ala Uncertain significance Single submitter
- NACA p.Val1853Met Uncertain significance Single submitter
- NACA p.Val1858Ile Uncertain significance Single submitter
- NACA p.Val1860Ile Uncertain significance Single submitter
- NACA p.Val196Ala Uncertain significance Single submitter
- NACA p.Val34Ile Uncertain significance Single submitter
- NACA p.Val367Ile Uncertain significance Single submitter
- NACA p.Val371Met Uncertain significance Single submitter
- NACA p.Val376Leu Uncertain significance Single submitter
- NACA p.Val433Ile Uncertain significance Single submitter
- NACA p.Val505Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- NACA p.Asn2015His Uncertain significance Single submitter
- NACA p.Gly2010Ser Uncertain significance Single submitter
- NACA p.Leu142Arg Uncertain significance Single submitter
- NACA p.Pro104Leu Uncertain significance Single submitter
- NACA p.Pro110Arg Uncertain significance Single submitter
- NACA p.Pro17Arg Uncertain significance Single submitter
- NACA p.Pro27Leu Uncertain significance Single submitter
- NACA p.Pro561Arg Uncertain significance Single submitter
- NACA p.Ser316Tyr Uncertain significance Single submitter
- NACA p.Thr2020Ile Uncertain significance Single submitter
- NACA p.Thr8Ile Uncertain significance Single submitter
All NACA variants
Benign 4
- p.Ala242= Multiple submitters
- p.Phe405Ser Multiple submitters
- p.Pro1772Ser Multiple submitters
- p.Pro490Arg Multiple submitters
Likely benign 28
- p.Ala1085= Single submitter
- p.Ala124Thr Single submitter
- p.Ala293Val Single submitter
- p.Gly1093= Single submitter
- p.Gly1262= Single submitter
- p.Gly953= Single submitter
- p.Gly976= Single submitter
- p.Gly999= Single submitter
- p.Ile251Val Single submitter
- p.Leu1209= Single submitter
- p.Met467Val Single submitter
- p.Pro1090= Single submitter
- p.Pro1113= Single submitter
- p.Pro1134= Single submitter
- p.Pro1157= Single submitter
- p.Pro1203= Single submitter
- p.Pro1214= Single submitter
- p.Pro1818Leu Single submitter
- p.Pro1828= Single submitter
- p.Pro959= Single submitter
- p.Pro973= Single submitter
- p.Thr1010= Single submitter
- p.Thr1150= Single submitter
- p.Thr1196= Single submitter
- p.Thr387Ala Single submitter
- p.Thr941= Single submitter
- p.Thr956= Single submitter
- p.Thr964= Single submitter
Uncertain significance 126
- p.Ala152Val Single submitter ⚠
- p.Ala1803Pro Single submitter ⚠
- p.Ala1833Val Single submitter ⚠
- p.Ala1868Val Single submitter ⚠
- p.Ala348Ser Single submitter ⚠
- p.Ala372Val Single submitter ⚠
- p.Ala450Thr Single submitter ⚠
- p.Ala588Pro Single submitter ⚠
- p.Ala64Val Single submitter ⚠
- p.Ala663Asp Single submitter ⚠
- p.Arg1934Trp Single submitter ⚠
- p.Arg1940Gln Single submitter ⚠
- p.Arg1960Gln Single submitter ⚠
- p.Asn1861Ser Single submitter ⚠
- p.Asn2015His Single submitter ⚠
- p.Asp342Glu Single submitter ⚠
- p.Asp654Glu Single submitter ⚠
- p.Cys49Phe Single submitter ⚠
- p.Cys49Ser Single submitter ⚠
- p.Gln281Leu Single submitter ⚠
- p.Gln40Glu Single submitter ⚠
- p.Gln40His Single submitter ⚠
- p.Glu1779Lys Single submitter ⚠
- p.Glu581Gly Single submitter ⚠
- p.Glu597Ala Single submitter ⚠
- p.Gly1822Val Single submitter ⚠
- p.Gly2010Ser Single submitter ⚠
- p.Gly324Cys Single submitter ⚠
- p.Gly541Arg Single submitter ⚠
- p.Gly657Arg Single submitter ⚠
- p.His343Arg Single submitter ⚠
- p.His343Leu Single submitter ⚠
- p.Ile107Val Single submitter ⚠
- p.Ile1849Val Single submitter ⚠
- p.Ile1969Val Single submitter ⚠
- p.Ile388Val Single submitter ⚠
- p.Ile503Met Single submitter ⚠
- p.Leu118Val Single submitter ⚠
- p.Leu142Arg Single submitter ⚠
- p.Leu1802Phe Single submitter ⚠
- p.Leu1843Val Single submitter ⚠
- p.Leu1859Pro Single submitter ⚠
- p.Leu278Pro Single submitter ⚠
- p.Leu322Val Single submitter ⚠
- p.Leu45His Single submitter ⚠
- p.Lys128Arg Single submitter ⚠
- p.Lys1780Asn Single submitter ⚠
- p.Lys1784Gln Single submitter ⚠
- p.Lys1878Glu Single submitter ⚠
- p.Lys190Glu Single submitter ⚠
- p.Lys2007Asn Single submitter ⚠
- p.Lys516Arg Single submitter ⚠
- p.Lys530Thr Single submitter ⚠
- p.Met28Leu Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro110Arg Single submitter ⚠
- p.Pro154Arg Single submitter ⚠
- p.Pro1783Arg Single submitter ⚠
- p.Pro1783Thr Single submitter ⚠
- p.Pro17Arg Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro181Leu Single submitter ⚠
- p.Pro1845Ser Single submitter ⚠
- p.Pro1846Leu Single submitter ⚠
- p.Pro184Gln Single submitter ⚠
- p.Pro1926Leu Single submitter
- p.Pro27Leu Single submitter ⚠
- p.Pro298Ser Single submitter ⚠
- p.Pro299Arg Single submitter ⚠
- p.Pro299Thr Single submitter ⚠
- p.Pro368Ala Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro385Leu Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro446His Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro487Arg Single submitter ⚠
- p.Pro504Ser Single submitter ⚠
- p.Pro508Leu Single submitter ⚠
- p.Pro510Leu Single submitter ⚠
- p.Pro512His Single submitter ⚠
- p.Pro561Arg Single submitter ⚠
- p.Pro571Thr Single submitter ⚠
- p.Pro655Ser Single submitter ⚠
- p.Ser120Thr Single submitter ⚠
- p.Ser1827Leu Single submitter ⚠
- p.Ser1857Leu Single submitter ⚠
- p.Ser263Gly Single submitter ⚠
- p.Ser271Asn Single submitter ⚠
- p.Ser288Tyr Single submitter ⚠
- p.Ser29Cys Single submitter ⚠
- p.Ser316Tyr Single submitter ⚠
- p.Ser380Cys Single submitter ⚠
- p.Ser389Cys Single submitter ⚠
- p.Ser390Thr Single submitter ⚠
- p.Ser418Cys Single submitter ⚠
- p.Ser545Cys Single submitter ⚠
- p.Ser75Leu Single submitter ⚠
- p.Thr1874Ala Single submitter ⚠
- p.Thr2020Ile Single submitter ⚠
- p.Thr249Ala Single submitter ⚠
- p.Thr297Pro Single submitter ⚠
- p.Thr403Ala Single submitter ⚠
- p.Thr403Ile Single submitter ⚠
- p.Thr403Pro Single submitter ⚠
- p.Thr454Ala Single submitter ⚠
- p.Thr461Ala Single submitter ⚠
- p.Thr500Ser Single submitter ⚠
- p.Thr528Ser Single submitter ⚠
- p.Thr552Ile Single submitter ⚠
- p.Thr589Ile Single submitter ⚠
- p.Thr8Ile Single submitter ⚠
- p.Tyr350Cys Single submitter ⚠
- p.Tyr425Cys Single submitter ⚠
- p.Val172Ala Single submitter ⚠
- p.Val1853Ala Single submitter ⚠
- p.Val1853Met Single submitter ⚠
- p.Val1858Ile Single submitter ⚠
- p.Val1860Ile Single submitter ⚠
- p.Val196Ala Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val367Ile Single submitter ⚠
- p.Val371Met Single submitter ⚠
- p.Val376Leu Single submitter ⚠
- p.Val433Ile Single submitter ⚠
- p.Val505Ile Single submitter ⚠