ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2665dup (p.Gln889fs)

dbSNP: rs1553413985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484062 SCV000572427 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing This duplication of one nucleotide in MSH6 is denoted c.2665dupC at the cDNA level and p.Gln889ProfsX11 (Q889PfsX11) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TAAG[dupC]AGGT. The duplication causes a frameshift, which changes a Glutamine to a Proline at codon 889 and creates a premature stop codon at position 11 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Myriad Genetics, Inc. RCV003449239 SCV004187147 pathogenic Lynch syndrome 5 2023-08-17 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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