ClinVar Miner

Submissions for variant NM_001887.4(CRYBB1):c.432+5G>C

dbSNP: rs1555940959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538742 SCV000645719 uncertain significance Cataract 17 multiple types 2020-03-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 4 of the CRYBB1 gene. It does not directly change the encoded amino acid sequence of the CRYBB1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has been observed in an individual affected with congenital cataracts (Invitae). ClinVar contains an entry for this variant (Variation ID: 468743). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV004777727 SCV005391234 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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