ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.493-5A>T

dbSNP: rs758377868
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566392 SCV000670156 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-26 criteria provided, single submitter clinical testing The c.577-5A>T intronic variant results from an A to T substitution 5 nucleotides upstream from coding exon 8 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; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000610055 SCV000724577 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000640415 SCV000762006 likely benign Familial adenomatous polyposis 2 2023-08-07 criteria provided, single submitter clinical testing
Mendelics RCV000640415 SCV000837771 uncertain significance Familial adenomatous polyposis 2 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000566392 SCV001357566 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-05 criteria provided, single submitter clinical testing This variant causes an A>T nucleotide substitution at the -5 position of intron 7 of the MUTYH gene. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in 1 individual diagnosed with at least 10 polyps (PMID: 24470512). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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