ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3389T>C (p.Met1130Thr)

dbSNP: rs774227681
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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 RCV000633264 SCV000754481 uncertain significance Werner syndrome 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1130 of the WRN protein (p.Met1130Thr). This variant is present in population databases (rs774227681, gnomAD 0.1%). 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: 528180). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV000633264 SCV003823796 uncertain significance Werner syndrome 2020-12-02 criteria provided, single submitter clinical testing

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