ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.478C>A (p.Gln160Lys) (rs63751426)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588121 SCV000696271 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing Variant summary: The c.478C>A (p.Gln160Lys) in MSH2 gene is a missense change that involves a non-conserved nucleotide and 5/5 in silico tools predict benign outcome. The variant of interest is located within a region that has a high homology to the connector domain of DNA mismatch repair proteins. The functional impact of this missense change is yet to be studied. The variant is absent from the large control population dataset of ExAC and has not, to our knowledge, been reported in the affected individuals via published reports or reputable databases/clinical laboratories. The variant was found to co-occur with a Likely Pathogenic mutation, c.349A>G (p.R117G0 in CHEK2 gene in an internal sample. At this time there is not sufficient undeniable evidence to classify this variant with confidence. Taken together, the variant was classified as VUS until more data becomes available.

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