ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2034T>A (p.Tyr678Ter)

dbSNP: rs1558519611
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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 RCV000702976 SCV000831854 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-06-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant has been observed in an individual affected with Lynch syndrome (PMID: 20877318). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr678*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002422583 SCV002723006 pathogenic Hereditary cancer-predisposing syndrome 2021-05-04 criteria provided, single submitter clinical testing The p.Y678* pathogenic mutation (also known as c.2034T>A), located in coding exon 13 of the MSH2 gene, results from a T to A substitution at nucleotide position 2034. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. 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.

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