ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.702_703insT (p.Thr235fs)

dbSNP: rs730881826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160742 SCV000211381 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in individuals with colorectal cancer (Susswein et al., 2016); This variant is associated with the following publications: (PMID: 26681312)
Myriad Genetics, Inc. RCV003453273 SCV004185847 pathogenic Lynch syndrome 5 2023-08-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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