ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)

dbSNP: rs587782352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131295 SCV000186267 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-13 criteria provided, single submitter clinical testing The p.S536N variant (also known as c.1607G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 1607. The serine at codon 536 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species and asparagine is the reference amino acid in several other 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.
Invitae RCV000693545 SCV000821418 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000131295 SCV000908377 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998099 SCV004839584 uncertain significance Lynch syndrome 2023-05-31 criteria provided, single submitter clinical testing

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