ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1883del (p.Gly628fs) (rs1064795127)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482381 SCV000570626 pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH2 is denoted c.1883delG at the cDNA level and p.Gly628AspfsX7 (G628DfsX7) at the protein level. The normal sequence, with the base that is deleted in braces, is AAAG[G]ACAA. The deletion causes a frameshift which changes a Glycine to an Aspartic Acid at codon 628, 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. We consider this variant to be pathogenic.
Ambry Genetics RCV000564988 SCV000669701 pathogenic Hereditary cancer-predisposing syndrome 2016-11-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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