ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.661G>A (p.Glu221Lys)

gnomAD frequency: 0.00002  dbSNP: rs757817018
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774590 SCV000908354 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856091 SCV002190947 benign Hereditary nonpolyposis colorectal neoplasms 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV002285413 SCV002576044 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21437237)
Ambry Genetics RCV000774590 SCV002667793 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-26 criteria provided, single submitter clinical testing The p.E221K variant (also known as c.661G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 661. The glutamic acid at codon 221 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV004569455 SCV005054966 uncertain significance Endometrial carcinoma 2024-01-15 criteria provided, single submitter clinical testing

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