ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2641G>A (p.Glu881Lys)

dbSNP: rs876660450
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566548 SCV000664975 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-02 criteria provided, single submitter clinical testing The p.E881K variant (also known as c.2641G>A), located in coding exon 16 of the MSH2 gene, results from a G to A substitution at nucleotide position 2641. The glutamic acid at codon 881 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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