ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) (rs749875940)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665086 SCV000789147 uncertain significance Propionyl-CoA carboxylase deficiency 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV000665086 SCV000932084 uncertain significance Propionyl-CoA carboxylase deficiency 2018-11-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PCCA gene (p.Asp722Glyfs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acids of the PCCA protein. This variant is present in population databases (rs749875940, ExAC 0.002%). This variant has been observed in combination with another PCCA variant in an individual affected with propionic acidemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 550359). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.

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