ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)

dbSNP: rs587782351
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131294 SCV000186266 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing The p.T232A variant (also known as c.694A>G), located in coding exon 9 of the MUTYH gene, results from an A to G substitution at nucleotide position 694. The threonine at codon 232 is replaced by alanine, an amino acid with similar 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455747 SCV000539818 uncertain significance not specified 2016-10-26 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant not reported in affected patients. MaxMAF of 0.002%. AA not conserved - Ala in 16 species (13 mammals). Reported in ClinVar by Ambry (1 star) as VUS.
Invitae RCV000474739 SCV000545782 uncertain significance Familial adenomatous polyposis 2 2023-12-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 232 of the MUTYH protein (p.Thr232Ala). This variant is present in population databases (rs587782351, 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: 142271). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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.
Counsyl RCV000474739 SCV000798642 uncertain significance Familial adenomatous polyposis 2 2018-03-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000131294 SCV000905863 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-01 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 232 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 been reported in an individual affected with male breast cancer (PMID: 30564557). This variant has been identified in 2/250668 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.
Mendelics RCV000474739 SCV001135260 uncertain significance Familial adenomatous polyposis 2 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000474739 SCV004198931 uncertain significance Familial adenomatous polyposis 2 2023-07-05 criteria provided, single submitter clinical testing

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