Submissions for variant NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)

gnomAD frequency: 0.00001  dbSNP: rs768703749

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	RCV000236395	SCV000256855	pathogenic	Propionic acidemia	2012-01-01	criteria provided, single submitter	research
Counsyl	RCV000236395	SCV000800257	likely pathogenic	Propionic acidemia	2018-05-29	criteria provided, single submitter	clinical testing
Invitae	RCV000236395	SCV000936965	pathogenic	Propionic acidemia	2023-10-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg476*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). This variant is present in population databases (rs768703749, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with propionic acidemia (PMID: 27227689, 32252659). ClinVar contains an entry for this variant (Variation ID: 218264). For these reasons, this variant has been classified as Pathogenic.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV000236395	SCV002053732	likely pathogenic	Propionic acidemia		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000236395	SCV003824754	pathogenic	Propionic acidemia	2022-05-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000236395	SCV002094977	pathogenic	Propionic acidemia	2021-01-29	no assertion criteria provided	clinical testing