ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2969T>A (p.Leu990Ter)

dbSNP: rs1669533825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268129 SCV001446800 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436987 SCV002750118 pathogenic Hereditary cancer-predisposing syndrome 2020-01-21 criteria provided, single submitter clinical testing The p.L990* pathogenic mutation (also known as c.2969T>A), located in coding exon 4 of the MSH6 gene, results from a T to A substitution at nucleotide position 2969. This changes the amino acid from a leucine 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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