ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.38A>G (p.Lys13Arg)

gnomAD frequency: 0.00001  dbSNP: rs41294988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458284 SCV000551162 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679240 SCV000805898 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771457 SCV000903874 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771457 SCV002624393 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-09 criteria provided, single submitter clinical testing The p.K13R variant (also known as c.38A>G), located in coding exon 1 of the MSH6 gene, results from an A to G substitution at nucleotide position 38. The lysine at codon 13 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved on limited sequence alignment. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003463935 SCV004195643 uncertain significance Endometrial carcinoma 2023-07-23 criteria provided, single submitter clinical testing

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