ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3613T>C (p.Ser1205Pro)

gnomAD frequency: 0.00002  dbSNP: rs368955181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800989 SCV000940736 uncertain significance Werner syndrome 2023-07-25 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 646656). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is present in population databases (rs368955181, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1205 of the WRN protein (p.Ser1205Pro).
Ambry Genetics RCV004962813 SCV005533739 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.3613T>C (p.S1205P) alteration is located in exon 31 (coding exon 30) of the WRN gene. This alteration results from a T to C substitution at nucleotide position 3613, causing the serine (S) at amino acid position 1205 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000800989 SCV005679021 uncertain significance Werner syndrome 2024-03-17 criteria provided, single submitter clinical testing

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