ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3775A>G (p.Met1259Val)

gnomAD frequency: 0.00001  dbSNP: rs1053530158
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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 RCV000804219 SCV000944116 uncertain significance Werner syndrome 2024-07-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1259 of the WRN protein (p.Met1259Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 649312). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine 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.
Fulgent Genetics, Fulgent Genetics RCV000804219 SCV005679029 uncertain significance Werner syndrome 2024-04-10 criteria provided, single submitter clinical testing

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