ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) (rs796052002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666436 SCV000790728 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-04-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589433 SCV000696309 pathogenic Methylmalonic acidemia 2017-02-09 criteria provided, single submitter clinical testing Variant summary: The MUT c.982C>T (p.Leu328Phe) variant involves the alteration of a conserved nucleotide and is located in substrate-binding TIM barrel of the protein (Lempp_2007, Dndar_2012). 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121168 control chromosomes including broad and large population of ExAC. This variant is reported as a pathogenic variant in literature and has been found in several patients with methylmalonic academia in homozygous as well as in compound heterozygous state with other potentially pathogenic variants. Functional studies for this variant are consistent with defective enzymatic activity. One clinical diagnostic laboratory has classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.

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