ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.183+4_183+7del

dbSNP: rs1555342581
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670345 SCV000795186 uncertain significance Propionic acidemia 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000670345 SCV001414278 uncertain significance Propionic acidemia 2019-06-26 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the PCCA gene. It does not directly change the encoded amino acid sequence of the PCCA protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554669). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000670345 SCV001481999 pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PM3, PP3, PP4
Natera, Inc. RCV000670345 SCV002094956 uncertain significance Propionic acidemia 2020-02-28 no assertion criteria provided clinical testing

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