ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3365G>C (p.Ser1122Thr)

dbSNP: rs772205458
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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 RCV001971585 SCV002266555 uncertain significance Werner syndrome 2021-03-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WRN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. This sequence change replaces serine with threonine at codon 1122 of the WRN protein (p.Ser1122Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs772205458, ExAC 0.002%).
Ambry Genetics RCV002573475 SCV003577538 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.3365G>C (p.S1122T) alteration is located in exon 28 (coding exon 27) of the WRN gene. This alteration results from a G to C substitution at nucleotide position 3365, causing the serine (S) at amino acid position 1122 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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