ClinVar Miner

Submissions for variant NM_001519.4(BRF1):c.677C>T (p.Ser226Leu)

gnomAD frequency: 0.00001  dbSNP: rs606231416
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267205 SCV001445386 likely pathogenic Inborn genetic diseases 2019-01-09 criteria provided, single submitter clinical testing
3billion RCV000150043 SCV002572860 pathogenic Cerebellar-facial-dental syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 25561519 , 25561519). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.86; 3Cnet: 0.56). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with BRF1-related disorder (ClinVar ID: VCV000161423 / PMID: 25561519). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 25561519). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Human Genetics, University of Ulm RCV000150043 SCV000192004 pathogenic Cerebellar-facial-dental syndrome 2014-12-04 no assertion criteria provided research
OMIM RCV000150043 SCV000196913 pathogenic Cerebellar-facial-dental syndrome 2015-01-05 no assertion criteria provided literature only

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