ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003632556 SCV004518803 uncertain significance Cataract 22 multiple types 2024-01-04 criteria provided, single submitter clinical testing This variant, c.159_160insTCG, results in the insertion of 1 amino acid(s) of the CRYBB3 protein (p.Leu53_Glu54insSer), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs573293007, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with CRYBB3-related conditions. 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.

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