ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) (rs2229385)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756365 SCV000884157 benign not provided 2017-05-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078439 SCV000110292 benign not specified 2013-03-28 criteria provided, single submitter clinical testing
GeneReviews RCV000203384 SCV000258485 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000400813 SCV000463867 likely benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000078439 SCV000917796 benign not specified 2018-12-03 criteria provided, single submitter clinical testing Variant summary: MUT c.1495G>A (p.Ala499Thr) results in a non-conservative amino acid change located in the Methylmalonyl-CoA mutase, alpha chain, catalytic domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.099 in 275710 control chromosomes in the gnomAD database, including 1409 homozygotes. The observed variant frequency is approximately 41-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in MUT causing Methylmalonic Acidemia phenotype (0.0024), strongly suggesting that the variant is benign. Two ClinVar submissions (evaluation after 2014) cite the variant as likely benign/benign. Based on the evidence outlined above, the variant was classified as benign.
PreventionGenetics RCV000078439 SCV000303173 benign not specified criteria provided, single submitter clinical testing

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