ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) (rs28937895)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521055 SCV000617492 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing The G831D variant in the WFS1 gene has been reported previously in the heterozygous state in several individuals from unrelated families with autosomal dominant non-syndromic low-frequency sensorineural hearing impairment (Bespalova et al., 2001; Cryns et al., 2002). The G831D variant is observed in 2/110270 (0.002%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The G831D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G831D as a variant of uncertain significance.
OMIM RCV000004781 SCV000024957 pathogenic WFS1-Related Disorders 2002-05-01 no assertion criteria provided literature only

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