ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4004_4007dup (p.Cys1337fs) (rs876658497)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219545 SCV000273814 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-01 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV000219545 SCV000685481 likely pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV000688985 SCV000816618 uncertain significance Hereditary nonpolyposis colon cancer 2018-05-11 criteria provided, single submitter clinical testing This sequence change inserts 4 nucleotides in exon 10 of the MSH6 mRNA (c.4004_4007dupAAGT), causing a frameshift at codon 1337. This creates a premature translational stop signal in the last exon of the MSH6 mRNA (p.Cys1337Serfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acids of the MSH6 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual undergoing multigene panel testing (PMID: 28514183). ClinVar contains an entry for this variant (Variation ID: 230310). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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