Sugi Variant

Sugi Variant/LAMA1

LAMA1 — 1817 ClinVar variants

All ClinVar germline LAMA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 589 flagged for review →

67 Pathogenic · 16 Pathogenic/Likely pathogenic · 65 Likely pathogenic · 79 Conflicting · 76 Benign · 63 Benign/Likely benign · 586 Likely benign · 865 Uncertain significance

Full LAMA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 589

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 51

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 514

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 514

Predictors split 24

The independent predictors disagree with each other — read with care.

All LAMA1 variants

Pathogenic 67

  • p.Arg1307Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Arg782Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln1803Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln345fs Multiple submitters
  • p.Glu1559fs Multiple submitters
  • p.Leu1359_Glu1360insTer Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Leu2099_Ser2100insTer Multiple submitters
  • p.Phe648fs Multiple submitters
  • c.1423-12C>G Single submitter LAMA1-related disorder
  • c.2402+1G>A Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.2988_2989delA Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.4807-2A>G Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.588+2T>G Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.6345+3G>C Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.6489+1G>C Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.7965-15_7965-3del Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Arg1391fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Arg1790Ter Single submitter
  • p.Arg2173Ter Single submitter
  • p.Arg498fs Single submitter LAMA1-related disorder
  • p.Arg982fs Single submitter
  • p.Asn2649fs Single submitter
  • p.Asn2926fs Single submitter
  • p.Cys1014Ter Single submitter
  • p.Cys1364Ter Single submitter retinal disorder
  • p.Cys1419Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Cys397fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln1128fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln1223Ter Single submitter
  • p.Gln1374Ter Single submitter Inborn genetic diseases
  • p.Gln150fs Single submitter
  • p.Gln1665fs Single submitter
  • p.Gln2328Ter Single submitter
  • p.Gln658Ter Single submitter
  • p.Gln99Ter Single submitter
  • p.Gly1235fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gly21fs Single submitter
  • p.Gly2899fs Single submitter LAMA1-related disorder
  • p.Gly469fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.His745fs Single submitter
  • p.His970fs Single submitter
  • p.Ile2288fs Single submitter
  • p.Leu1746fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Leu942fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Lys978fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Phe2775fs Single submitter
  • p.Pro2234fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Pro2543fs Single submitter
  • p.Ser1896_Leu1897insTer Single submitter
  • p.Ser694fs Single submitter
  • p.Thr996fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Trp1294Ter Single submitter
  • p.Trp2977Ter Single submitter
  • p.Trp827Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Tyr1296Ter Single submitter
  • p.Tyr151Ter Single submitter
  • p.Tyr185Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Tyr308Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Tyr939fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Val360fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Val927fs Single submitter
  • p.Ala896_Lys897insGlnSerProGlySerAlaTer No assertion criteria inherited retinal dystrophy
  • p.Cys427Ter No assertion criteria ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Ile165fs No assertion criteria ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Pro1018fs No assertion criteria ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Trp281Ter No assertion criteria
  • p.Tyr988fs No assertion criteria ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Pathogenic/Likely pathogenic 16

  • c.8556+1G>A Multiple submitters LAMA1-related disorder
  • p.Arg1133Ter Multiple submitters Inborn genetic diseases
  • p.Arg169Ter Multiple submitters
  • p.Arg2394Ter Multiple submitters LAMA1-related disorder
  • p.Arg2921Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Arg62Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Arg979fs Multiple submitters LAMA1-related disorder
  • p.Asp2913fs Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln1838Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln2112fs Multiple submitters LAMA1-related disorder
  • p.Gly4fs Multiple submitters LAMA1-related disorder
  • p.His415fs Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Ser1901fs Multiple submitters LAMA1-related disorder
  • p.Ser2337fs Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Trp1033Ter Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Trp93_Gln94delinsCysTer Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Likely pathogenic 65

  • c.7195+2T>A Multiple submitters ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln2870Ter Multiple submitters LAMA1-related disorder
  • p.Lys2452Ter Multiple submitters LAMA1-related disorder
  • c.2051+1G>A Single submitter
  • c.2402+5G>A Single submitter
  • c.2403-2A>G Single submitter
  • c.2701+2T>C Single submitter LAMA1-related disorder
  • c.2702-1G>T Single submitter LAMA1-related disorder
  • c.4896+1G>T Single submitter
  • c.588+1G>T Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.6008-2A>G Single submitter
  • c.6490-1dup Single submitter
  • c.7050+1G>C Single submitter
  • c.7195+2T>C Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.7337+3A>T Single submitter
  • c.7452+1G>A Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.7779-1G>A Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.7779-2A>G Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • c.859-55_876del Single submitter LAMA1-related disorder
  • p.Arg1266Ter Single submitter LAMA1-related disorder
  • p.Arg175fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Arg222Ter Single submitter
  • p.Asn2334fs Single submitter LAMA1-related disorder
  • p.Asp1540fs Single submitter LAMA1-related disorder
  • p.Asp2874fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Cys1090fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Cys1539fs Single submitter LAMA1-related disorder
  • p.Cys376fs Single submitter LAMA1-related disorder
  • p.Gln1042Ter Single submitter
  • p.Gln1257Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln1696Ter Single submitter LAMA1-related disorder
  • p.Gln1707Ter Single submitter LAMA1-related disorder
  • p.Gln1823Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln1989Ter Single submitter
  • p.Gln2582Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln2890Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gln551Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Glu1134Ter Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Glu158fs Single submitter LAMA1-related disorder
  • p.Glu1704fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Glu1835fs Single submitter LAMA1-related disorder
  • p.Glu293fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gly1061fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gly1572fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Gly353Ter Single submitter
  • p.Leu2439fs Single submitter LAMA1-related disorder
  • p.Leu2690fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Leu2737fs Single submitter
  • p.Leu546fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Leu617_Thr618insTer Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Leu936fs Single submitter
  • p.Lys1441_Val1442insTer Single submitter LAMA1-related disorder
  • p.Lys1796fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Lys2736_Ser2738delinsAsn Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Phe3066fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Pro2323fs Single submitter LAMA1-related disorder
  • p.Thr1501fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Trp2797fs Single submitter LAMA1-related disorder
  • p.Trp2797Ter Single submitter LAMA1-related disorder
  • p.Tyr1588fs Single submitter ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
  • p.Tyr2287Ter Single submitter
  • p.Tyr2624His Single submitter Inborn genetic diseases
  • p.Val530fs Single submitter LAMA1-related disorder
  • p.Val8fs Single submitter LAMA1-related disorder
  • p.Gln94Arg No assertion criteria ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Conflicting classifications of pathogenicity 79

Benign 76

Benign/Likely benign 63

Likely benign 586

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 865

Showing the top 300 by review status; the full set is in the sitemap.