ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.109G>T (p.Val37Leu) (rs1057518946)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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 2019-10-21 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.