ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1619_1620del (p.Leu540fs) (rs1553413006)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657410 SCV000779145 pathogenic not provided 2017-11-03 criteria provided, single submitter clinical testing This deletion of two nucleotides in MSH6 is denoted c.1619_1620delTT at the cDNA level and p.Leu540GlnfsX22 (L540QfsX22) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CTTC[delTT]AGCC. The deletion causes a frameshift which changes a Leucine to a Glutamine at codon 540, and creates a premature stop codon at position 22 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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