ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)

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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 RCV002439818 SCV002750953 pathogenic Hereditary cancer-predisposing syndrome 2019-07-15 criteria provided, single submitter clinical testing The p.W97* pathogenic mutation (also known as c.290G>A), located in coding exon 2 of the MSH6 gene, results from a G to A substitution at nucleotide position 290. This changes the amino acid from a tryptophan to a stop codon within coding exon 2. 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.
Myriad Genetics, Inc. RCV003455501 SCV004185804 pathogenic Lynch syndrome 5 2023-08-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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