ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3700T>G (p.Ser1234Ala)

gnomAD frequency: 0.00001  dbSNP: rs951983679
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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 RCV000633225 SCV000754441 uncertain significance Werner syndrome 2024-02-19 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 1234 of the WRN protein (p.Ser1234Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 528142). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV000633225 SCV005679026 uncertain significance Werner syndrome 2024-03-09 criteria provided, single submitter clinical testing

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