ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1471A>T (p.Lys491Ter)

dbSNP: rs1666730991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525504 SCV001735638 pathogenic Hereditary cancer-predisposing syndrome 2020-05-11 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 9 of the MSH2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Ambry Genetics RCV001525504 SCV002697959 pathogenic Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing The p.K491* pathogenic mutation (also known as c.1471A>T), located in coding exon 9 of the MSH2 gene, results from an A to T substitution at nucleotide position 1471. This changes the amino acid from a lysine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001250021 SCV001423946 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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