ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450428 SCV004188260 pathogenic Lynch syndrome 5 2023-08-15 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.
Baylor Genetics RCV003459872 SCV004198147 likely pathogenic Endometrial carcinoma 2022-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654224 SCV005140749 pathogenic Hereditary cancer-predisposing syndrome 2024-06-05 criteria provided, single submitter clinical testing The p.K543* pathogenic mutation (also known as c.1627A>T), located in coding exon 4 of the MSH6 gene, results from an A to T substitution at nucleotide position 1627. This changes the amino acid from a lysine to a stop codon within coding exon 4. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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