ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3744_3753dup (p.Val1253fs) (rs1553333078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479861 SCV000570419 pathogenic not provided 2016-05-25 criteria provided, single submitter clinical testing This duplication of 10 nucleotides in MSH6 is denoted c.3744_3753dup10 at the cDNA level and p.Val1253ProfsX25 (V1253PfsX25) at the protein level. The surrounding sequence is CTCA[dup10]TTAG. The duplication causes a frameshift which changes a Valine to a Proline at codon 1253, and creates a premature stop codon at position 25 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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