ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu)

gnomAD frequency: 0.00202  dbSNP: rs145770544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148981 SCV001309904 likely benign Cataract 22 multiple types 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV002557201 SCV003579320 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.125C>T (p.S42L) alteration is located in exon 3 (coding exon 2) of the CRYBB3 gene. This alteration results from a C to T substitution at nucleotide position 125, causing the serine (S) at amino acid position 42 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV001148981 SCV004520378 benign Cataract 22 multiple types 2022-10-31 criteria provided, single submitter clinical testing

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