ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.641C>T (p.Ala214Val)

gnomAD frequency: 0.00001  dbSNP: rs750861249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991673 SCV002280627 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 214 of the WFS1 protein (p.Ala214Val). This variant is present in population databases (rs750861249, gnomAD 0.006%). 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: 1496004). 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.
GeneDx RCV001991673 SCV002513034 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002486595 SCV002788922 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002625388 SCV003742794 uncertain significance Inborn genetic diseases 2021-02-16 criteria provided, single submitter clinical testing The c.641C>T (p.A214V) alteration is located in exon 6 (coding exon 5) of the WFS1 gene. This alteration results from a C to T substitution at nucleotide position 641, causing the alanine (A) at amino acid position 214 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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