ClinVar Miner

Submissions for variant NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)

dbSNP: rs1064797219
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488356 SCV000575096 likely pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001040033 SCV001203588 pathogenic Cataract 10 multiple types 2023-08-31 criteria provided, single submitter clinical testing This variant, c.272_274del, results in the deletion of 1 amino acid(s) of the CRYBA1 protein (p.Gly91del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with congenital cataracts (PMID: 14669215, 15016766, 17653060, 21866213, 28120589, 28450710). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 425127). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CRYBA1 function (PMID: 15016766, 20300566). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000488356 SCV003915056 pathogenic not provided 2023-04-04 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with reduced solubility, defective folding, and reduced expression (Reddy et al., 2004; Li et al., 2019); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15111599, 25148791, 17653060, 14669215, 27628848, 28450710, 15558493, 24384146, 18587492, 21866213, 21686330, 34419537, 29364738, 28120589, 15016766, 31488069, 33243271)
Molecular Medicine, University of Pavia RCV001040033 SCV004022105 likely pathogenic Cataract 10 multiple types 2023-07-28 criteria provided, single submitter research
OMIM RCV001040033 SCV000038746 pathogenic Cataract 10 multiple types 2004-05-01 no assertion criteria provided literature only

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