ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.187G>A (p.Val63Ile) (rs116840818)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217618 SCV000278980 pathogenic not provided 2020-12-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014; ); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20301548, 10093067, 9361298, 8162049, 25025039, 9364054, 17100997, 11393532, 12542510, 9633821, 12477701, 9099841, 15006706, 30569560)
Athena Diagnostics Inc RCV000217618 SCV000613479 pathogenic not provided 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV001064548 SCV001229458 pathogenic Charcot-Marie-Tooth Neuropathy X 2020-10-03 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 63 of the GJB1 protein (p.Val63Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and a family affected with Charcot-Marie-Tooth disease (PMID: 8162049, 12542510, 10093067). ClinVar contains an entry for this variant (Variation ID: 21081). This variant has been reported to mildly affect GJB1 protein function (PMID: 9364054, 11393532, 15006706). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000217618 SCV001245762 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneReviews RCV000020171 SCV000040500 pathologic Charcot-Marie-Tooth Neuropathy X Type 1 2010-04-15 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789665 SCV000929039 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Natera, Inc. RCV000789665 SCV001462643 pathogenic Charcot-Marie-Tooth disease 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000217618 SCV001924182 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000217618 SCV001955069 pathogenic not provided no assertion criteria provided clinical testing

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