ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) (rs753288303)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723412 SCV000330976 pathogenic not provided 2015-09-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588430 SCV000696303 pathogenic Methylmalonic acidemia 2017-02-09 criteria provided, single submitter clinical testing Variant summary: The MUT c.1280G>A (p.Gly427Asp) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 4/121440 control chromosomes at a frequency of 0.0000329, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUT variant (0.0024152). This variant has been reported in multiple affected individuals as homozygote as well as compound heterozygotes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000203344 SCV000893721 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000203344 SCV000258504 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only
Counsyl RCV000203344 SCV000798851 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-03-30 no assertion criteria provided clinical testing

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