ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)

gnomAD frequency: 0.00076  dbSNP: rs147538201
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686636 SCV000814163 uncertain significance Propionic acidemia 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 304 of the PCCB protein (p.Thr304Ile). This variant is present in population databases (rs147538201, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PCCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 566744). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PCCB protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000686636 SCV000895534 uncertain significance Propionic acidemia 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000686636 SCV003812343 uncertain significance Propionic acidemia 2022-12-13 criteria provided, single submitter clinical testing
GeneDx RCV003222100 SCV003918727 uncertain significance not provided 2023-04-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000686636 SCV001454521 uncertain significance Propionic acidemia 2020-09-16 no assertion criteria provided clinical testing

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