ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) (rs587782351)

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Total submissions: 6
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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 2019-01-17 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, Partners HealthCare 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 MYH-associated polyposis 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 232 of the MUTYH protein (p.Thr232Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs587782351, ExAC 0.002%). This variant has not been reported in the literature in individuals with MUTYH-related disease. 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: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 MYH-associated polyposis 2018-03-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131294 SCV000905863 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-29 criteria provided, single submitter clinical testing
Mendelics RCV000474739 SCV001135260 uncertain significance MYH-associated polyposis 2019-05-28 criteria provided, single submitter clinical testing

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