ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.900del (p.Lys301fs)

dbSNP: rs863225421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001989989 SCV002232485 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-03-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MSH6-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys301Argfs*4) 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 RCV002370601 SCV002683490 pathogenic Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter clinical testing The c.900delG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 900, causing a translational frameshift with a predicted alternate stop codon (p.K301Rfs*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. RCV003453839 SCV004187133 pathogenic Lynch syndrome 5 2023-08-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003471111 SCV004195841 likely pathogenic Endometrial carcinoma 2023-01-25 criteria provided, single submitter clinical testing

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