ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)

gnomAD frequency: 0.00001  dbSNP: rs564413149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000370601 SCV000345430 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000370601 SCV002303045 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 332 of the WFS1 protein (p.Ile332Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WFS1 protein function. This variant has not been reported in the literature in individuals with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290798). This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002487286 SCV002792244 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-02-26 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509354 SCV002817331 uncertain risk allele Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy.However no sufficient evidence is found to ascertain the role of this particular variant rs564413149 in Wolfram's syndrome yet.

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