ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2944C>T (p.Pro982Ser)

gnomAD frequency: 0.00003  dbSNP: rs756832663
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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 RCV000469532 SCV000541419 uncertain significance Werner syndrome 2022-08-09 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 982 of the WRN protein (p.Pro982Ser). This variant is present in population databases (rs756832663, gnomAD 0.04%). 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: 403999). 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: "Probably Damaging"; 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.
Revvity Omics, Revvity RCV000469532 SCV003823789 uncertain significance Werner syndrome 2022-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000469532 SCV005676871 uncertain significance Werner syndrome 2024-03-07 criteria provided, single submitter clinical testing

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