ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2003C>G (p.Ser668Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417216 SCV002718675 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-01 criteria provided, single submitter clinical testing The p.S668C variant (also known as c.2003C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 2003. The serine at codon 668 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.
All of Us Research Program, National Institutes of Health RCV004007388 SCV004838886 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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