ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)

dbSNP: rs1272484865
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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 RCV001941526 SCV002237227 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp365*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MSH6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Ambry Genetics RCV003170170 SCV003867520 pathogenic Hereditary cancer-predisposing syndrome 2023-03-13 criteria provided, single submitter clinical testing The p.W365* pathogenic mutation (also known as c.1095G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 1095. This changes the amino acid from a tryptophan 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. RCV003453857 SCV004185753 pathogenic Lynch syndrome 5 2023-08-11 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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