ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: 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,Mass General Brigham 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 2022-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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