ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3214G>A (p.Gly1072Ser)

dbSNP: rs1558386938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000758679 SCV000887450 uncertain significance Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH6 NM_000179.2:c.3214G>A has a 14.6% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 1.56 to 1, generated from evidence of seeing this as a somatic mutation in a tumor without loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214.
Color Diagnostics, LLC DBA Color Health RCV001184368 SCV001350330 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184368 SCV002610372 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-09 criteria provided, single submitter clinical testing The p.G1072S variant (also known as c.3214G>A), located in coding exon 5 of the MSH6 gene, results from a G to A substitution at nucleotide position 3214. The glycine at codon 1072 is replaced by serine, 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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