ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1255_1268del (p.Gln419fs) (rs876661251)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217315 SCV000279899 pathogenic not provided 2016-02-22 criteria provided, single submitter clinical testing This deletion of del14 nucleotides in MSH6 is denoted c.1255_1268del14 at the cDNA level and p.Gln419CysfsX11 (Q419CfsX11) at the protein level. The surrounding sequence is GTCT[del14]TGTC. The deletion causes a frameshift which changes a Glutamine to a Cysteine at codon 419, and creates a premature stop codon at position 11 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. Based on the currently available information, we consider this deletion to be pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586672 SCV000695778 likely pathogenic Lynch syndrome 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.1255_1268delCAGAACTTTGATCT (p.Gln419Cysfs) frameshift variant results in a premature termination codon, predicted to cause a truncated or absent MSH6 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (p.Arg482X, p.Lys545fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121340 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Probaly Disease Variant.

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