ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)

dbSNP: rs750672608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664787 SCV000788800 uncertain significance Propionic acidemia 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV000664787 SCV003454147 uncertain significance Propionic acidemia 2022-06-08 criteria provided, single submitter clinical testing This variant, c.611_613del, results in the deletion of 1 amino acid(s) of the PCCA protein (p.Glu204del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750672608, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 550137). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002532037 SCV003707278 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.611_613delAAG (p.E204del) alteration is located in exon 8 (coding exon 8) of the PCCA gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.611 and c.613, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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