ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)

gnomAD frequency: 0.00606  dbSNP: rs61749895
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000127322 SCV000303453 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000032108 SCV000631899 benign Propionic acidemia 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000032108 SCV001269809 uncertain significance Propionic acidemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000032108 SCV001653386 likely benign Propionic acidemia 2021-05-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000127322 SCV002500460 likely benign not specified 2022-03-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262596 SCV002545136 benign not provided 2022-05-01 criteria provided, single submitter clinical testing PCCA: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000032108 SCV003800072 likely benign Propionic acidemia 2023-09-07 criteria provided, single submitter clinical testing
GeneReviews RCV000032108 SCV000055648 not provided Propionic acidemia no assertion provided literature only
Natera, Inc. RCV000032108 SCV001455850 benign Propionic acidemia 2020-09-16 no assertion criteria provided clinical testing

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