ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.109G>T (p.Val37Leu) (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
Invitae RCV000797143 SCV000936686 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-10-19 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). 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). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc 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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