ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.527T>C (p.Val176Ala)

gnomAD frequency: 0.00001  dbSNP: rs772915458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787592 SCV002031054 uncertain significance not provided 2021-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with congenital anomalies of the kidney and urinary tract (CAKUT) in published literature (Bekheirnia et al., 2021) who had a different genetic etiology for the phenotype; Has not been previously published as pathogenic or benign in association with a WFS1-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 27535533, Bekheirnia2020)
Fulgent Genetics, Fulgent Genetics RCV002489835 SCV002782161 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-10 criteria provided, single submitter clinical testing

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