ClinVar Miner

Submissions for variant NM_000281.4(PCBD1):c.46del (p.Leu16fs)

dbSNP: rs397518414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003517134 SCV004294739 pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 2023-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91905). This premature translational stop signal has been observed in individual(s) with early-onset diabetes (PMID: 24848070). This variant is present in population databases (rs397518414, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu16Cysfs*5) in the PCBD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCBD1 are known to be pathogenic (PMID: 958615).
Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC) RCV000143790 SCV000105992 not provided not provided no assertion provided not provided

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