ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.446A>T (p.Asp149Val) (rs1194327802)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756366 SCV000884158 uncertain significance not provided 2018-02-20 criteria provided, single submitter clinical testing The p.Asp149Val variant has not been reported in the medical literature or gene specific variation databases; however nearby variants (p.Ser148L, p.D156N and p.G158V) have been reported in association with methylmalonic aciduria (Acquaviva 2005). This variant is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The aspartic acid at position 149 is highly conserved up to C. elegans considering 11 species (Alamut v2.10) and computational analyses of the p.Asp149Val variant on protein structure and function indicate a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Asp149Val variant with certainty.

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