ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) (rs148651921)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186080 SCV000239104 uncertain significance not specified 2017-06-21 criteria provided, single submitter clinical testing p.Arg49Cys (CGT>TGT): c.145 C>T in exon 2 of the PCCA gene (NM_000282.3) The R49C missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a non-conservative amino acid substitution of a positively charged Arginine with an uncharged, polar Cysteine at a residue that is conserved across mammalian species. In silico analysis predicts this variant is probably damaging to the PCCA protein. This variant was observed at a frequency of 0.7%, 31/4406 alleles, in individuals of African American ancestry and in 0.01%, 1/8600 alleles, in individuals of European American ancestry by the NHLBI Exome Sequencing Project, with all reported individuals being heterozygous for this variant. Therefore, based on the currently available information, it is unclear whether R49C is a disease-causing mutation or a rare benign variant. The variant is found in UCD-MET panel(s).
Invitae RCV000872167 SCV001013946 likely benign Propionic acidemia 2020-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872167 SCV001463908 benign Propionic acidemia 2020-04-17 no assertion criteria provided clinical testing

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