ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.862G>C (p.Val288Leu)

gnomAD frequency: 0.00003  dbSNP: rs201984177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507958 SCV000604602 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV001061662 SCV001226412 uncertain significance Propionic acidemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 288 of the PCCB protein (p.Val288Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs201984177, ExAC 0.02%). 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: 440022). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001061662 SCV002081485 uncertain significance Propionic acidemia 2019-10-28 no assertion criteria provided clinical testing

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