ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)

dbSNP: rs1553773148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667135 SCV000791540 uncertain significance Propionic acidemia 2017-05-17 criteria provided, single submitter clinical testing
Invitae RCV000667135 SCV003008798 uncertain significance Propionic acidemia 2022-02-18 criteria provided, single submitter clinical testing This variant, c.12_26del, results in the deletion of 5 amino acid(s) of the PCCB protein (p.Leu5_Ala9del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 551958). 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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