ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3801+1G>T (rs876660943)

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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 RCV000217114 SCV000278763 likely pathogenic Hereditary cancer-predisposing syndrome 2017-04-20 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000226322 SCV000283816 likely pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-06-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of MSH6. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in an individual with a MSH6-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763498 SCV000894284 likely pathogenic Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 2018-10-31 criteria provided, single submitter clinical testing

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