ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.109G>T (p.Val37Leu)

dbSNP: rs1057518946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415308 SCV000492992 likely pathogenic Reduced tendon reflexes; Hammertoe; Achilles tendon contracture; Distal sensory impairment; Talipes cavus equinovarus; Progressive distal muscular atrophy; Progressive distal muscle weakness; Pain 2014-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797143 SCV000936686 pathogenic Charcot-Marie-Tooth Neuropathy X 2021-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in several individuals affected with X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) (PMID: 16096811, 21291455, 28448691, 22243284) and has been observed to segregate with CMTX1 in multiple families (PMID: 16096811, 21291455). ClinVar contains an entry for this variant (Variation ID: 374173). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 37 of the GJB1 protein (p.Val37Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.
Athena Diagnostics RCV000991852 SCV001143678 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789238 SCV000928590 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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