ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1353+5_1353+9del

dbSNP: rs764045674
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000236383 SCV000256846 pathogenic Propionic acidemia 2012-01-01 criteria provided, single submitter research
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000236383 SCV001482005 pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PM3_supportive, PP3, PP4
Invitae RCV000236383 SCV003442770 uncertain significance Propionic acidemia 2024-01-29 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the PCCA gene. It does not directly change the encoded amino acid sequence of the PCCA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs764045674, gnomAD 0.01%). This variant has been observed in individual(s) with propionic acidemia (PMID: 25636094, 27227689). ClinVar contains an entry for this variant (Variation ID: 254165). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000236383 SCV004202850 likely pathogenic Propionic acidemia 2023-09-15 criteria provided, single submitter clinical testing

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