ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2119G>T (p.Glu707Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417586 SCV002727078 pathogenic Hereditary cancer-predisposing syndrome 2020-07-06 criteria provided, single submitter clinical testing The p.E707* variant (also known as c.2119G>T), located in coding exon 4 of the MSH6 gene, results from a G to T substitution at nucleotide position 2119. 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.

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