ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1744del (p.Val582fs) (rs587779964)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115509 SCV000149418 pathogenic not provided 2013-12-31 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH2 c.1744delG at the cDNA level and p.Val582SerfsX8 (V582SfsX8) at the protein level. The normal sequence, with the base that is deleted in brackets, is AATT[G]TCAA. The deletion causes a frameshift, changing a Valine to a Serine at codon 582, and creating a premature stop codon at position 8 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. Although this variant has not been previously reported to our knowledge, it is considered pathogenic.

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