ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.780A>G (p.Thr260=)

dbSNP: rs1557470829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043689 SCV001207447 uncertain significance Familial adenomatous polyposis 2 2022-05-11 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. This sequence change affects codon 288 of the MUTYH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MUTYH protein. This variant is not present in population databases (gnomAD no frequency). 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: 841464). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Baylor Genetics RCV001043689 SCV004198815 uncertain significance Familial adenomatous polyposis 2 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649417 SCV005144038 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-30 criteria provided, single submitter clinical testing The c.864A>G variant (also known as p.T288T), located in coding exon 10 of the MUTYH gene, results from an A to G substitution at nucleotide position 864. This nucleotide substitution does not change the threonine at codon 288. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will 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 variant remains unclear.

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