ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.331A>G (p.Ile111Val) (rs1003660637)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669067 SCV000793768 uncertain significance Deafness, autosomal recessive 1A 2017-08-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193186 SCV001361878 uncertain significance not specified 2019-09-25 criteria provided, single submitter clinical testing Variant summary: GJB2 c.331A>G (p.Ile111Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 250288 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.331A>G has been reported in the literature in a heterozygous individuals affected with non-syndromic congential deafness (Azaiez_2004). This report however, does not provide unequivocal conclusions about association of the variant with Autosomal Recessive Non-Syndromic Hearing Loss. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001766444 SCV001988700 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing Reported without a second variant in a patient with congenital deafness in the published literature (Azaiez et al., 2004); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15365987, 25388846)

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