ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.722del (p.Gly241fs) (rs745571507)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666232 SCV000790490 likely pathogenic Propionyl-CoA carboxylase deficiency 2017-04-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000666232 SCV000917968 pathogenic Propionyl-CoA carboxylase deficiency 2018-01-05 criteria provided, single submitter clinical testing Variant summary: The PCCA c.722delG (p.Gly241ValfsX19) variant results in a premature termination codon, predicted to cause a truncated or absent PCCA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 8/245002 control chromosomes in gnomAD at a frequency of 0.0000327, which does not exceed the estimated maximal expected allele frequency of a pathogenic PCCA variant (0.003446). This variant has been identified in at least 2 patients with Propionic Acidemia, both of whom were homozygous and had early onset of symptoms (Perez_2003, Tuchman_2008). Taken together, this variant is classified as pathogenic.

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