ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.791T>C (p.Phe264Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922439 SCV003262177 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2053354). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 264 of the WFS1 protein (p.Phe264Ser). This variant is present in population databases (rs772586872, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005034489 SCV005664702 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-05-14 criteria provided, single submitter clinical testing

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