ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.878_880delinsT (p.Pro293Leufs)

dbSNP: rs1558659626
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708613 SCV000821742 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This is a frameshift variant in exon 4 of the MSH6 mRNA resulting in an unrecognizable protein product after codon 293 and the creation of a novel translational termination signal 18 amino acid residues later. The protein thus produced is expected to be truncated and non-functional. Truncating variants MSH6 are known to be pathogenic (PMID: 24362816, 18269114). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).

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