ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) (rs145135400)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973820 SCV001121602 likely benign Propionic acidemia 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000973820 SCV001306810 uncertain significance Propionic acidemia 2017-09-01 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.
GeneDx RCV001563448 SCV001786394 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing Expression in E. coli found that this variant is associated with approximately 13% residual enzyme activity (Kraus et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function This variant is associated with the following publications: (PMID: 22033733)

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