ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-38G>C (rs774530388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766680 SCV000293298 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000237070 SCV000601647 uncertain significance not specified 2017-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020693 SCV001182203 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-29 criteria provided, single submitter clinical testing The c.36+4C>G intronic variant results from a C to G substitution 4 nucleotides after coding exon 1 in the MUTYH gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to weaken the efficiency of the native splice donor site, but is not predicted to have a deleterious effect on this splice donor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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