ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.344C>T (p.Ala115Val)

dbSNP: rs2149165354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360651 SCV001556578 uncertain significance Familial adenomatous polyposis 2 2020-03-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MUTYH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 143 of the MUTYH protein (p.Ala143Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV002329358 SCV002629608 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing The p.A143V variant (also known as c.428C>T), located in coding exon 5 of the MUTYH gene, results from a C to T substitution at nucleotide position 428. The alanine at codon 143 is replaced by valine, an amino acid with similar properties. This amino acid position is well 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.

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