ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1285-4C>T

gnomAD frequency: 0.00002  dbSNP: rs372262089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429591 SCV000526099 likely benign not specified 2016-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000938495 SCV001084306 likely benign Propionic acidemia 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521719 SCV003547240 uncertain significance Inborn genetic diseases 2021-11-19 criteria provided, single submitter clinical testing The c.1285-4C>T intronic alteration consists of a C to T substitution 4 nucleotides before coding exon 15 in the PCCA gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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