ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1430dup (p.Tyr478fs) (rs1114167746)

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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 RCV000491241 SCV000580248 pathogenic Hereditary cancer-predisposing syndrome 2014-09-26 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 RCV000657248 SCV000778978 pathogenic not provided 2018-03-28 criteria provided, single submitter clinical testing This duplication of one nucleotide in MSH6 is denoted c.1430dupG at the cDNA level and p.Tyr478LeufsX2 (Y478LfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is AAGG[dupG]CTAT. The duplication causes a frameshift which changes a Tyrosine to a Leucine at codon 478, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MSH6 c.1430dupG has been observed in at least one individual with a personal and/or family history of Lynch syndrome associated cancers (Baglietto 2010). We consider this variant to be pathogenic.

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