ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)

dbSNP: rs749875940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665086 SCV000789147 uncertain significance Propionic acidemia 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV000665086 SCV000932084 uncertain significance Propionic acidemia 2022-07-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp722Glyfs*32) in the PCCA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the PCCA protein. This variant is present in population databases (rs749875940, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with propionic acidemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 550359). 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.
Baylor Genetics RCV000665086 SCV004202843 likely pathogenic Propionic acidemia 2023-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665086 SCV002094990 uncertain significance Propionic acidemia 2020-07-30 no assertion criteria provided clinical testing

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