ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)

gnomAD frequency: 0.00001  dbSNP: rs1468203736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305446 SCV001494781 uncertain significance Propionic acidemia 2022-11-22 criteria provided, single submitter clinical testing 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. 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) performed at Invitae indicates that this missense variant is expected to disrupt PCCB protein function. ClinVar contains an entry for this variant (Variation ID: 1008157). This variant has not been reported in the literature in individuals affected with PCCB-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 154 of the PCCB protein (p.Pro154Ser).
Ambry Genetics RCV004036352 SCV005000339 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.460C>T (p.P154S) alteration is located in exon 5 (coding exon 5) of the PCCB gene. This alteration results from a C to T substitution at nucleotide position 460, causing the proline (P) at amino acid position 154 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001305446 SCV002081471 uncertain significance Propionic acidemia 2021-08-05 no assertion criteria provided clinical testing

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