ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.158G>C (p.Gly53Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468547 SCV002764586 uncertain significance Wolfram syndrome 1; Wolfram-like syndrome 2021-02-22 criteria provided, single submitter clinical testing The heterozygous c.158G>C (p.Gly53Ala) missense variant identified in the WFS1 gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD(V3) database suggesting it is not a common benign variant in populations represented in that database. The affected residue is weakly conserved and in silico tools predict that the p.Gly53Ala variant may have no effect on normal function(s) of the wolframin protein [CADD score = 9.6, REVEL score = 0.164]. Based on the available evidence, the heterozygous c.158G>C (p.Gly53Ala) missense variant identified in the WFS1 gene is reported as a variant of uncertain significance.

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