ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) (rs17089782)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201558 SCV000256460 likely pathogenic Joubert syndrome 2015-07-13 criteria provided, single submitter research
OMIM RCV000515458 SCV000611544 pathogenic JOUBERT SYNDROME 33 2015-08-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000201558 SCV001142440 uncertain significance Joubert syndrome 2020-01-06 no assertion criteria provided curation NM_006346.2:c.1214G>A in the PIBF1 gene has an allele frequency of 0.102 in Latino subpopulation in the gnomAD database. Wheway et al reported a pedigree of family with compound heterozygous PIBF1 variants c.1214G>A p.Arg405Gln and a genomic deletion encompassing exons 6 to 9 (c.673-?_1322+?del) of PIBF1 in affected two individuals II.5 and II.7, with phase unknown (PMID: 26167768). It was reported that this variant should be excluded from BA1 rule and has been classified as VUS according to ClinGen Sequence Variant Interpretation Working Group (PMID: 30311383). ACMG/AMP criteria applied: PM3; BS2.

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