ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1649C>G (p.Ser550Cys)

gnomAD frequency: 0.00003  dbSNP: rs878853710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234013 SCV000283724 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-07-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580239 SCV000685208 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580239 SCV001173034 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-31 criteria provided, single submitter clinical testing The p.S550C variant (also known as c.1649C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 1649. The serine at codon 550 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well 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.
GeneDx RCV004767182 SCV005375811 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in an individual with breast cancer (PMID: 35402282); This variant is associated with the following publications: (PMID: 17531815, 21120944, 35402282)

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