ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.143C>T (p.Ala48Val) (rs397517195)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038639 SCV000062317 likely benign not specified 2012-11-20 criteria provided, single submitter clinical testing Ala48Val in exon 2 of WFS1: This variant is not expected to have clinical signif icance due to a lack of conservation across species at both the nucleotide and a mino acid level. Of note, rabbit, dolphin, cow, and horse have a valine (Val) a t this position. Therefore, this variant is likely benign.
GeneDx RCV000766857 SCV000618806 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing The A48V variant in the WFS1 gene has not been reported previously as a pathogenic variant, nor asa benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek etal., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A48V variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is not conserved. Insilico analysis predicts this variant likely does not alter the protein structure/function. We interpretA48V as a variant of uncertain significance.

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