ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.415-2A>C (rs746286209)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780576 SCV000917967 pathogenic Propionyl-CoA carboxylase deficiency 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The PCCA c.415-2A>C variant involves the alteration of a conserved intronic nucleotide and 5/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/245328 control chromosomes (gnomAD) at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic PCCA variant (0.003446). A publication, Kraus_2012, cites the variant in an affected compound heterozygote individual. Although, the variant has not, to our knowledge, been cited by clinical diagnostic laboratories via ClinVar, but a reputable database, HGMD, cites the variant as disease-causing. Taken together, this variant is classified as pathogenic.

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