ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.421-12T>G

gnomAD frequency: 0.00001  dbSNP: rs890418965
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482933 SCV000570234 uncertain significance not provided 2016-05-04 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.505-12T>G or IVS6-12T>G and consists of a T>G nucleotide substitution at the -12 position of intron 6 of the MUTYH gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MUTYH c.505-12T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether MUTYH c.505-12T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health RCV000580025 SCV000685637 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing This variant causes a T>G nucleotide substitution at the -12 position of intron 6 of the MUTYH gene. This variant is also known as c.463-12T>G based on an alternative transcript (NM_001048171). Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003114605 SCV003787321 likely benign Familial adenomatous polyposis 2 2025-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003114605 SCV004198887 uncertain significance Familial adenomatous polyposis 2 2023-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580025 SCV004849140 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-02 criteria provided, single submitter clinical testing The c.505-12T>G intronic alteration consists of a T to G substitution 12 nucleotides before coding exon 7 in the MUTYH gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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