ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.17C>A (p.Ala6Glu)

dbSNP: rs756437904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584265 SCV000690592 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces alanine with glutamic acid at codon 20 of the MUTYH protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MUTYH-related disorders in the literature. This variant has been identified in 1/251492 chromosomes 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.
Ambry Genetics RCV000584265 SCV002657152 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-20 criteria provided, single submitter clinical testing The p.A20E variant (also known as c.59C>A), located in coding exon 2 of the MUTYH gene, results from a C to A substitution at nucleotide position 59. The alanine at codon 20 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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