ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.154C>T (p.Pro52Ser)

dbSNP: rs111773340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001951950 SCV002189255 uncertain significance not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 52 of the WFS1 protein (p.Pro52Ser). This variant is present in population databases (rs111773340, gnomAD 0.05%). 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: 1418122). 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 with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002484528 SCV002791282 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247159 SCV003981764 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.154C>T (p.P52S) alteration is located in exon 2 (coding exon 1) of the WFS1 gene. This alteration results from a C to T substitution at nucleotide position 154, causing the proline (P) at amino acid position 52 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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