ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)

gnomAD frequency: 0.00001  dbSNP: rs1400179119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302599 SCV001491813 uncertain significance Propionic acidemia 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 629 of the PCCA protein (p.Phe629Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. 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 C55"). 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.
Ambry Genetics RCV002539502 SCV003595445 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.1886T>G (p.F629C) alteration is located in exon 21 (coding exon 21) of the PCCA gene. This alteration results from a T to G substitution at nucleotide position 1886, causing the phenylalanine (F) at amino acid position 629 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001302599 SCV002094982 uncertain significance Propionic acidemia 2020-05-29 no assertion criteria provided clinical testing

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