ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) (rs1801002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666230 SCV000790488 uncertain significance Deafness, autosomal recessive 1A 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001662735 SCV001874211 likely pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing Reported in multiple individuals with hearing loss, but some individuals were reported to harbor this variant as a single heterozygous variant despite family history suggestive of recessive inheritance, and others did not have information provided about zygosity or the presence of a second variant (Ferraris et al., 2002; Mahdieh et al., 2011; Bazazzadegan et al., 2012; Loeza-Becerra et al., 2014; Hernandez-Juarez et al., 2014; Zeinali et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31215297, 34276761, 21388256, 26252218, 25012701, 25288386, 24774219, 22695344, 25388846, 12325027)

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