ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2722G>T (p.Glu908Ter)

dbSNP: rs886056144
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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 RCV002427089 SCV002743601 pathogenic Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing The p.E908* pathogenic mutation (also known as c.2722G>T), located in coding exon 4 of the MSH6 gene, results from a G to T substitution at nucleotide position 2722. 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.
Cancer Genomics Laboratory, Texas Children's Hospital RCV000845243 SCV000965671 affects Cerebellar medulloblastoma no assertion criteria provided case-control

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