ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu)

gnomAD frequency: 0.00001  dbSNP: rs375880230
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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 RCV001964530 SCV002127536 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 725 of the WFS1 protein (p.Phe725Leu). This variant is present in population databases (rs375880230, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1367945). 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.
New York Genome Center RCV002275258 SCV002564363 uncertain significance Wolfram syndrome 1 2021-08-27 criteria provided, single submitter clinical testing

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