ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)

dbSNP: rs1034824113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071695 SCV001237013 uncertain significance Propionic acidemia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 322 of the PCCB protein (p.Ser322Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with propionic acidemia (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.

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