ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter)

dbSNP: rs1553413355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809107 SCV002059494 likely pathogenic Endometrial carcinoma 2021-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422867 SCV002719124 pathogenic Hereditary cancer-predisposing syndrome 2021-05-26 criteria provided, single submitter clinical testing The p.S664* pathogenic mutation (also known as c.1991C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 1991. This changes the amino acid from a serine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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