ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3647delG (rs1064795629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481123 SCV000571613 pathogenic not provided 2016-09-02 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH6 is denoted c.3647delG at the cDNA level and p.Gly1216GlufsX12 (G1216EfsX12) at the protein level. The normal sequence, with the base that is deleted in braces, is ACAG[G]AAGA. The deletion causes a frameshift which changes a Glycine to a Glutamic Acid at codon 1216, and creates a premature stop codon at position 12 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 RCV000491618 SCV000580169 pathogenic Hereditary cancer-predisposing syndrome 2018-01-02 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)

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