ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter)

dbSNP: rs1572728898
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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 RCV002434052 SCV002748497 pathogenic Hereditary cancer-predisposing syndrome 2021-12-20 criteria provided, single submitter clinical testing The p.E948* pathogenic mutation (also known as c.2842G>T), located in coding exon 4 of the MSH6 gene, results from a G to T substitution at nucleotide position 2842. This changes the amino acid from a glutamic acid 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.
MVZ Praenatalmedizin und Genetik Nuernberg RCV000856619 SCV000999083 pathogenic Lynch syndrome 5 2019-02-28 no assertion criteria provided clinical testing GnomAD shows no entry for this variant (very rare or private variant). This variant in exon 4 of MSH6 results in a premature stop-codon. Thus, we expect a loss of function. Accordingly, ClinVar lists several nonsense mutations further downstream (e.g. p.Tyr977Ter) with pathogenic classification (expert panel). We therefore classify this variant as pathogenic.

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