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

gnomAD frequency: 0.00202  dbSNP: rs145770544

Total submissions: 4

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001148981	SCV004520378	benign	Cataract 22 multiple types	2022-10-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704457	SCV005210198	likely benign	not provided		criteria provided, single submitter	not provided