ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.553A>G (p.Lys185Glu)

dbSNP: rs193922344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002345258 SCV002649408 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-31 criteria provided, single submitter clinical testing The p.K185E variant (also known as c.553A>G), located in coding exon 3 of the MSH6 gene, results from an A to G substitution at nucleotide position 553. The lysine at codon 185 is replaced by glutamic acid, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030276 SCV000052943 uncertain significance Lynch syndrome 2015-10-02 no assertion criteria provided clinical testing

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