SCARB1 — 187 ClinVar variants
All ClinVar germline SCARB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Pathogenic · 1 Conflicting · 36 Benign · 3 Benign/Likely benign · 66 Likely benign · 80 Uncertain significance
Full SCARB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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SCARB1 p.Pro376Leu
Conflicting
Single submitter
SCARB1-related disorder
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SCARB1 p.Ala144Val Uncertain significance Single submitter
- SCARB1 p.Ala367Thr Uncertain significance Single submitter
- SCARB1 p.Ala417Thr Uncertain significance Single submitter
- SCARB1 p.Ala444Pro Uncertain significance Single submitter
- SCARB1 p.Arg87Gln Uncertain significance Single submitter
- SCARB1 p.Arg89His Uncertain significance Single submitter
- SCARB1 p.Asn227Lys Uncertain significance Single submitter
- SCARB1 p.Asn364Lys Uncertain significance Single submitter
- SCARB1 p.Asp132Asn Uncertain significance Single submitter
- SCARB1 p.Asp215Asn Uncertain significance Single submitter
- SCARB1 p.Asp47Glu Uncertain significance Single submitter
- SCARB1 p.Glu318Lys Uncertain significance Single submitter
- SCARB1 p.Glu356Lys Uncertain significance Single submitter
- SCARB1 p.Gly143Asp Uncertain significance Single submitter
- SCARB1 p.Gly167Ser Uncertain significance Single submitter
- SCARB1 p.Gly291Arg Uncertain significance Single submitter
- SCARB1 p.Gly319Val Uncertain significance Single submitter
- SCARB1 p.His99Tyr Uncertain significance Single submitter
- SCARB1 p.Ile134Val Uncertain significance Single submitter
- SCARB1 p.Ile158Met Uncertain significance Single submitter
- SCARB1 p.Ile46Val Uncertain significance Single submitter
- SCARB1 p.Lys193Arg Uncertain significance Single submitter
- SCARB1 p.Met55Val Uncertain significance Single submitter
- SCARB1 p.Pro137Ser Uncertain significance Single submitter
- SCARB1 p.Pro152Ser Uncertain significance Single submitter
- SCARB1 p.Pro268Leu Uncertain significance Single submitter
- SCARB1 p.Pro316His Uncertain significance Single submitter
-
SCARB1 p.Pro345Thr
Uncertain significance
Single submitter
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
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SCARB1 p.Pro84Leu
Uncertain significance
Single submitter
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
- SCARB1 p.Ser271Pro Uncertain significance Single submitter
- SCARB1 p.Thr164Ala Uncertain significance Single submitter
- SCARB1 p.Thr175Ala Uncertain significance Single submitter
- SCARB1 p.Thr220Met Uncertain significance Single submitter
- SCARB1 p.Thr306Asn Uncertain significance Single submitter
- SCARB1 p.Trp181Arg Uncertain significance Single submitter
- SCARB1 p.Val111Met Uncertain significance Single submitter
- SCARB1 p.Val292Met Uncertain significance Single submitter
- SCARB1 p.Val30Gly Uncertain significance Single submitter
- SCARB1 p.Val447Ile Uncertain significance Single submitter
- SCARB1 p.Val44Met Uncertain significance Single submitter
- SCARB1 p.Val67Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- SCARB1 p.Arg45Cys Uncertain significance Multiple submitters
- SCARB1 p.Met136Lys Uncertain significance Multiple submitters
- SCARB1 p.Pro48Ala Uncertain significance Multiple submitters
- SCARB1 p.Arg174Cys Uncertain significance Single submitter
- SCARB1 p.Arg300His Uncertain significance Single submitter
- SCARB1 p.Asn255Ser Uncertain significance Single submitter
- SCARB1 p.Asp249Tyr Uncertain significance Single submitter
- SCARB1 p.Glu82Lys Uncertain significance Single submitter
- SCARB1 p.Gly239Arg Uncertain significance Single submitter
- SCARB1 p.His346Gln Uncertain significance Single submitter
- SCARB1 p.Leu157Pro Uncertain significance Single submitter
- SCARB1 p.Met261Thr Uncertain significance Single submitter
- SCARB1 p.Met422Thr Uncertain significance Single submitter
- SCARB1 p.Pro123Leu Uncertain significance Single submitter
- SCARB1 p.Pro277Leu Uncertain significance Single submitter
- SCARB1 p.Ser229Arg Uncertain significance Single submitter
- SCARB1 p.Ser229Gly Likely benign Single submitter
- SCARB1 p.Thr104Ile Uncertain significance Single submitter
- SCARB1 p.Thr378Met Uncertain significance Single submitter
All SCARB1 variants
Pathogenic 1
- c.727-2A>C Single submitter HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
Conflicting classifications of pathogenicity 1
- p.Pro376Leu Single submitter SCARB1-related disorder ⚠
Benign 36
- c.1128+73C>A Multiple submitters
- c.1255-41C>G Multiple submitters
- c.1255-52T>G Multiple submitters
- c.1255-69G>A Multiple submitters
- c.1401+130T>C Multiple submitters
- c.726+54C>T Multiple submitters
- c.*1-112C>T Multiple submitters
- c.*72G>A Multiple submitters
- c.*94G>A Multiple submitters
- p.Ala350= Multiple submitters
- p.Gly167= Multiple submitters
- p.Phe301= Multiple submitters
- p.Val135Ile Multiple submitters
- c.1129-154del Single submitter
- c.1129-161dup Single submitter
- c.1202+216del Single submitter
- c.1254+274G>A Single submitter
- c.285-170G>A Single submitter
- c.285-17A>C Single submitter
- c.285-9C>T Single submitter
- c.426+150T>C Single submitter
- c.631-14T>G Single submitter
- c.631-203C>T Single submitter
- c.631-239C>T Single submitter
- c.631-53C>T Single submitter
- c.726+255G>A Single submitter
- c.726+55G>A Single submitter
- c.727-193G>A Single submitter
- c.842+20G>A Single submitter
- c.843-202A>G Single submitter
- p.Asn43= Single submitter
- p.Gly311= Single submitter
- p.Pro277= Single submitter
- p.Pro412= Single submitter
- p.Pro60= Single submitter
- p.Ser76= Single submitter
Benign/Likely benign 3
- c.630+15G>A Multiple submitters
- p.Ala7= Multiple submitters
- p.Ser129Leu Multiple submitters
Likely benign 66
- c.1202+80G>A Multiple submitters
- c.427-80G>T Multiple submitters
- c.727-9T>C Multiple submitters
- c.*1530+78G>A Multiple submitters
- p.Tyr92= Multiple submitters
- c.1009+6_1009+7dup Single submitter
- c.1009+9C>T Single submitter
- c.1203-12_1203-9del Single submitter
- c.1203-8A>G Single submitter
- c.1254+10C>T Single submitter
- c.1254+11G>A Single submitter
- c.1254+12T>C Single submitter
- c.1255-4T>C Single submitter
- c.126+261G>A Single submitter
- c.127-18T>C Single submitter
- c.127-18T>G Single submitter
- c.1401+174T>C Single submitter
- c.1402-16C>T Single submitter
- c.1402-17G>A Single submitter
- c.285-18C>T Single submitter
- c.285-190A>G Single submitter
- c.426+117C>T Single submitter
- c.426+17G>C Single submitter
- c.427-18T>C Single submitter
- c.427-9G>A Single submitter
- c.631-193C>T Single submitter
- c.631-20G>A Single submitter
- c.726+10G>A Single submitter
- c.726+8G>A Single submitter
- c.726+9C>T Single submitter
- c.842+17G>C Single submitter
- c.843-180G>A Single submitter
- c.*1-143C>T Single submitter
- p.Ala145= Single submitter
- p.Arg117= Single submitter
- p.Arg335= Single submitter
- p.Asn108= Single submitter
- p.Asn310= Single submitter
- p.Asn317= Single submitter
- p.Cys453= Single submitter
- p.Gln488= Single submitter
- p.Gly404Arg Single submitter
- p.His127= Single submitter
- p.Ile374= Single submitter
- p.Ile46= Single submitter
- p.Lys405= Single submitter
- p.Phe205= Single submitter
- p.Phe336= Single submitter
- p.Phe347= Single submitter
- p.Pro322= Single submitter
- p.Pro352= Single submitter
- p.Pro91= Single submitter
- p.Ser129= Single submitter
- p.Ser229Gly Single submitter ⚠
- p.Ser258= Single submitter
- p.Ser271= Single submitter
- p.Ser419= Single submitter
- p.Ser66= Single submitter
- p.Thr110= Single submitter
- p.Thr164= Single submitter
- p.Tyr446= Single submitter
- p.Val243= Single submitter
- p.Val331Ile Single submitter
- p.Val72= Single submitter
- c.1255-10G>A No assertion criteria SCARB1-related disorder
- c.*15C>T No assertion criteria SCARB1-related disorder
Uncertain significance 80
- p.Arg45Cys Multiple submitters ⚠
- p.Lys482Asn Multiple submitters
- p.Met136Lys Multiple submitters ⚠
- p.Pro48Ala Multiple submitters ⚠
- c.1009+4C>T Single submitter
- c.1128+3G>A Single submitter
- c.1203-4C>A Single submitter
- c.284+3G>A Single submitter
- c.630+4C>T Single submitter
- c.630+5G>A Single submitter
- c.726+16C>T Single submitter
- c.727-13T>A Single submitter
- p.Ala144Val Single submitter ⚠
- p.Ala145Val Single submitter
- p.Ala367Thr Single submitter ⚠
- p.Ala417Thr Single submitter ⚠
- p.Ala444Pro Single submitter ⚠
- p.Arg117Cys Single submitter
- p.Arg174Cys Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg89His Single submitter ⚠
- p.Asn227Lys Single submitter ⚠
- p.Asn255Ser Single submitter ⚠
- p.Asn364Lys Single submitter ⚠
- p.Asp132Asn Single submitter ⚠
- p.Asp215Asn Single submitter ⚠
- p.Asp249Tyr Single submitter ⚠
- p.Asp351Asn Single submitter
- p.Asp47Glu Single submitter ⚠
- p.Gln445Ter Single submitter
- p.Glu318Lys Single submitter ⚠
- p.Glu356Lys Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Gly143Asp Single submitter ⚠
- p.Gly167Ser Single submitter ⚠
- p.Gly239Arg Single submitter ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly319Val Single submitter ⚠
- p.Gly480Asp Single submitter
- p.His346Gln Single submitter ⚠
- p.His99Tyr Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile158Met Single submitter ⚠
- p.Ile46Val Single submitter ⚠
- p.Leu157Pro Single submitter ⚠
- p.Leu509Val Single submitter
- p.Lys193Arg Single submitter ⚠
- p.Lys469Asn Single submitter
- p.Met261Thr Single submitter ⚠
- p.Met422Thr Single submitter ⚠
- p.Met55Val Single submitter ⚠
- p.Phe245Ile Single submitter
- p.Pro123Leu Single submitter ⚠
- p.Pro137Ser Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro277Leu Single submitter ⚠
- p.Pro316His Single submitter ⚠
- p.Pro345Thr Single submitter HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 ⚠
- p.Pro84Leu Single submitter HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 ⚠
- p.Ser229Arg Single submitter ⚠
- p.Ser271Pro Single submitter ⚠
- p.Ser477Ile Single submitter
- p.Ser502Pro Single submitter
- p.Thr104Ile Single submitter ⚠
- p.Thr164Ala Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr220Met Single submitter ⚠
- p.Thr306Asn Single submitter ⚠
- p.Thr378Met Single submitter ⚠
- p.Trp181Arg Single submitter ⚠
- p.Trp415Ter Single submitter
- p.Tyr490Phe Single submitter
- p.Val111Met Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val30Gly Single submitter ⚠
- p.Val447Ile Single submitter ⚠
- p.Val44Met Single submitter ⚠
- p.Val67Ile Single submitter ⚠