ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)

gnomAD frequency: 0.00003  dbSNP: rs770341883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208742 SCV001380147 pathogenic Propionic acidemia 2023-09-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 363 of the PCCB protein (p.Ser363Pro). This variant is present in population databases (rs770341883, gnomAD 0.05%). This missense change has been observed in individual(s) with propionic acidemia (PMID: 25636094, 33028371, 35331292; Invitae). ClinVar contains an entry for this variant (Variation ID: 939354). 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. This variant disrupts the p.Ser363 amino acid residue in PCCB. Other variant(s) that disrupt this residue have been observed in individuals with PCCB-related conditions (PMID: 30705822), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001208742 SCV004205196 pathogenic Propionic acidemia 2023-09-07 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001208742 SCV004228606 not provided Propionic acidemia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-29-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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