ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3690del (p.Val1231fs) (rs730881829)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160745 SCV000211387 pathogenic not provided 2014-07-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH6 is denoted c.3690delA at the cDNA level and p.Val1231LeufsX9 (V1231LfsX9) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATGC[A]GTTG. The deletion causes a frameshift, which changes a Valine to a Leucine at codon 1231, and creates a premature stop codon at position 9 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.
Invitae RCV000205295 SCV000261880 pathogenic Lynch syndrome 2015-10-29 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 8 of the MSH6 mRNA (c.3690delA), causing a frameshift at codon 1231. This creates a premature translational stop signal (p.Val1231Leufs*9) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.

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