ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.265-3C>T

dbSNP: rs534010336
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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 RCV001020437 SCV001181918 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-08 criteria provided, single submitter clinical testing The c.349-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 4 in the MUTYH gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001585926 SCV001819418 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing Not observed at a 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, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV002550861 SCV003348530 uncertain significance Familial adenomatous polyposis 2 2022-05-03 criteria provided, single submitter clinical testing This sequence change falls in intron 3 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. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 823840). 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 is not likely to affect RNA splicing. 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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