ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)

dbSNP: rs1553414395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694583 SCV000823034 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 573031). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1006*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816).
Ambry Genetics RCV002440471 SCV002754266 pathogenic Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter clinical testing The p.Y1006* pathogenic mutation (also known as c.3018C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 3018. This changes the amino acid from a tyrosine to a stop codon within coding exon 4. 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.
Myriad Genetics, Inc. RCV003453457 SCV004187352 pathogenic Lynch syndrome 5 2023-08-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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