ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.1133A>C (p.His378Pro)

gnomAD frequency: 0.00001  dbSNP: rs147863910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995834 SCV001150203 likely pathogenic Joubert syndrome 33 2019-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363038 SCV004080327 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.1133A>C (p.H378P) alteration is located in exon 9 (coding exon 8) of the PIBF1 gene. This alteration results from a A to C substitution at nucleotide position 1133, causing the histidine (H) at amino acid position 378 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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