ClinVar Miner

Submissions for variant NM_006783.4(GJB6):c.63delG (p.Lys22Argfs) (rs770612890)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440483 SCV000511699 likely pathogenic not provided 2017-02-10 criteria provided, single submitter clinical testing
Counsyl RCV000409500 SCV000487352 likely pathogenic Hidrotic ectodermal dysplasia syndrome 2016-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354367 SCV000383104 uncertain significance GJB6-related disorders 2018-05-03 criteria provided, single submitter clinical testing The GJB6 c.63delG (p.Lys22ArgfsTer13) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00070 in the African American population of the Exome Sequencing Project. Based on the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for GJB6-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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