ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) (rs886058383)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000322567 SCV000443336 uncertain significance Lynch syndrome II 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000604019 SCV000731404 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing The p.Ser508Arg variant in MLH1 has not been previously reported in individuals with Lynch syndrome, but has been reported in ClinVar (Variation ID 344908). Thi s variant was absent from large population studies. Computational prediction too ls and conservation analysis suggest that the p.Ser508Arg variant may not impact the protein, though this information is not predictive enough to rule out patho genicity. In summary, the clinical significance of the p.Ser508Arg variant is un certain.

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