ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) (rs188766510)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513136 SCV000609208 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765883 SCV000897286 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765883 SCV000947213 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 473 of the MUT protein (p.Ala473Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs188766510, ExAC 0.04%). This variant has not been reported in the literature in individuals with MUT-related disease. ClinVar contains an entry for this variant (Variation ID: 444683). 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"). 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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