ClinVar Miner

Submissions for variant NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)

dbSNP: rs121908938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056968 SCV002601130 pathogenic not provided 2022-05-18 criteria provided, single submitter clinical testing Identified in multiple unrelated families with autosomal dominant congenital cataracts referred for testing at GeneDx and in published literature (Li et al., 2018; Jakobs et al., 2000; Zhang et al., 2004; Zhang et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19587458, 21042563, 21850182, 10634598, 29914532, 15570218, 17200662, 17490642, 27628848, 23288997, 17982427, 10739768)
Labcorp Genetics (formerly Invitae), Labcorp RCV000006962 SCV003525361 pathogenic Cataract 12 multiple types 2022-05-06 criteria provided, single submitter clinical testing This variant is present in population databases (rs776669908, gnomAD 0.0009%). This variant, c.697_699del, results in the deletion of 1 amino acid(s) of the BFSP2 protein (p.Glu233del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individuals with autosomal dominant congenital cataract (PMID: 15570218, 27628848, 29914532; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. This variant is also known as 696_698del (deltaE233).
OMIM RCV000006962 SCV000027158 pathogenic Cataract 12 multiple types 2004-11-17 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056968 SCV000088081 not provided not provided no assertion provided not provided
PreventionGenetics, part of Exact Sciences RCV004730836 SCV005340719 pathogenic BFSP2-related disorder 2024-06-28 no assertion criteria provided clinical testing The BFSP2 c.697_699delGAA variant is predicted to result in an in-frame deletion (p.Glu233del). This variant was reported to segregate with pediatric cataracts in three large unrelated families (Family ADCC-3 in Jakobs et al. 2000. PubMed ID: 10739768; Zhang et al. 2004. PubMed ID: 15570218; Family 11 in Li et al. 2018. PubMed ID: 29914532). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has been interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/6584/). This variant is interpreted as pathogenic.

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