ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2842G>T (p.Glu948Ter) (rs1572728898)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000856619 SCV000999083 pathogenic Hereditary nonpolyposis colorectal cancer type 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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