ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3766dup (p.Tyr1256fs) (rs1553333127)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482164 SCV000570958 pathogenic not provided 2016-07-11 criteria provided, single submitter clinical testing This duplication of one nucleotides in MSH6 is denoted c.3766dupT at the cDNA level and p.Tyr1256LeufsX19 (Y1256LfsX19) at the protein level. The surrounding sequence is AGAT[T]ATTC. The duplication causes a frameshift which changes a Tyrosine to a Leucine at codon 1256, and creates a premature stop codon at position 19 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.

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