ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3622dup (p.Ser1208fs) (rs1553332733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000576026 SCV000670066 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657249 SCV000778979 pathogenic not provided 2017-09-15 criteria provided, single submitter clinical testing This duplication of one nucleotide in MSH6 is denoted c.3622dupT at the cDNA level and p.Ser1208PhefsX7 (S1208FfsX7) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACAT[dupT]CTCT. The duplication causes a frameshift which changes a Serine to a Phenylalanine at codon 1208, and creates a premature stop codon at position 7 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. Based on currently available information, we consider MSH6 c.3622dupT to be pathogenic.

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