ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.*11T>C

gnomAD frequency: 0.00001  dbSNP: rs757708396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000771152 SCV000902991 likely benign Hereditary cancer-predisposing syndrome 2017-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001712748 SCV001941542 benign not provided 2015-09-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535897 SCV004715594 likely benign MSH6-related disorder 2020-12-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355760 SCV001550729 uncertain significance Lynch syndrome no assertion criteria provided clinical testing The MSH6 c.*11T>C variant was not identified in the literature nor was it identified in the ClinVar or UMD-LSDB databases. The variant was identified in dbSNP (ID: rs757708396). The variant was identified in control databases in 2 of 245696 chromosomes at a frequency of 0.000008 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 1 of 33520 chromosomes (freq: 0.00003) and European in 1 of 111462 chromosomes (freq: 0.000009), but not in the African, Other, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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