ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs)

dbSNP: rs2104472237
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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 RCV001951128 SCV002239020 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MSH6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn1065Ilefs*13) 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 RCV002324405 SCV002609418 pathogenic Hereditary cancer-predisposing syndrome 2020-10-26 criteria provided, single submitter clinical testing The c.3194_3197delACTA pathogenic mutation, located in coding exon 5 of the MSH6 gene, results from a deletion of 4 nucleotides at nucleotide positions 3194 to 3197, causing a translational frameshift with a predicted alternate stop codon (p.N1065Ifs*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.
Laboratory for Genotyping Development, RIKEN RCV003170177 SCV002758362 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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