ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-38dup

dbSNP: rs1557517901
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695258 SCV000823745 uncertain significance Familial adenomatous polyposis 2 2023-05-09 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 573559). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the MUTYH gene. It does not directly change the encoded amino acid sequence of the MUTYH protein. It affects a nucleotide within the consensus splice site.
Color Diagnostics, LLC DBA Color Health RCV000776728 SCV000912362 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000695258 SCV004198976 uncertain significance Familial adenomatous polyposis 2 2023-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478421 SCV004222084 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on MUTYH mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant.
Ambry Genetics RCV000776728 SCV005037986 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-05 criteria provided, single submitter clinical testing The c.36+4dupC intronic variant is located 4 nucleotides after coding exon 1 of the MUTYH gene. This variant results from a duplication of one nucleotide at position c.36+4. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this alteration remains unclear.

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