ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.772C>T (p.Pro258Ser) (rs786201772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164236 SCV000214857 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-20 criteria provided, single submitter clinical testing The p.P272S variant (also known as c.814C>T), located in coding exon 10 of the MUTYH gene, results from a C to T substitution at nucleotide position 814. The proline at codon 272 is replaced by serine, 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.
Counsyl RCV000411809 SCV000487328 uncertain significance MYH-associated polyposis 2015-12-23 criteria provided, single submitter clinical testing
Invitae RCV000411809 SCV000815040 uncertain significance MYH-associated polyposis 2020-06-28 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 272 of the MUTYH protein (p.Pro272Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 184896). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.

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