ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)

gnomAD frequency: 0.00004  dbSNP: rs587778534
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410208 SCV000487338 uncertain significance Familial adenomatous polyposis 2 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410208 SCV000545791 uncertain significance Familial adenomatous polyposis 2 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 279 of the MUTYH protein (p.Asn279Thr). This variant is present in population databases (rs587778534, gnomAD 0.03%). This missense change has been observed in individual(s) with MUTYH-associated polyposis (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 134857). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV000491219 SCV000580082 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-27 criteria provided, single submitter clinical testing The p.N279T variant (also known as c.836A>C), located in coding exon 10 of the MUTYH gene, results from an A to C substitution at nucleotide position 836. The asparagine at codon 279 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985864 SCV001134487 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000491219 SCV001352103 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-08 criteria provided, single submitter clinical testing This missense variant replaces asparagine with threonine at codon 279 of the MUTYH protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 3/31360 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.
GeneDx RCV000985864 SCV001825652 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
All of Us Research Program, National Institutes of Health RCV000410208 SCV004843250 uncertain significance Familial adenomatous polyposis 2 2023-03-23 criteria provided, single submitter clinical testing This missense variant replaces asparagine with threonine at codon 279 of the MUTYH protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. 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 been identified in 3/31360 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.
Baylor Genetics RCV000410208 SCV005056029 uncertain significance Familial adenomatous polyposis 2 2024-03-19 criteria provided, single submitter clinical testing
ITMI RCV000121590 SCV000085786 not provided not specified 2013-09-19 no assertion provided reference population

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