ClinVar Miner

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

gnomAD frequency: 0.00771  dbSNP: rs17089782
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169935 SCV001251666 uncertain significance not specified 2020-05-03 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000515458 SCV001745894 uncertain significance Joubert syndrome 33 2021-07-09 criteria provided, single submitter clinical testing Variant found in trans with a nonsense mutation in an individual with Joubert syndrome.
Invitae RCV002057037 SCV002370916 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000515458 SCV002512489 uncertain significance Joubert syndrome 33 2022-02-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM3 moderate, BS2
Mendelics RCV001169935 SCV002518844 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
UW Hindbrain Malformation Research Program, University of Washington RCV000201558 SCV000256460 likely pathogenic Familial aplasia of the vermis 2015-07-13 flagged submission research
OMIM RCV000515458 SCV000611544 pathogenic Joubert syndrome 33 2015-08-01 flagged submission literature only
Reproductive Health Research and Development, BGI Genomics RCV000201558 SCV001142440 uncertain significance Familial aplasia of the vermis 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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