Submissions for variant NM_001887.4(CRYBB1):c.171del (p.Asn58fs)

dbSNP: rs1064793935

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000486232	SCV000567398	pathogenic	not provided	2018-12-03	criteria provided, single submitter	clinical testing	The c.171delG deletion in the CRYBB1 gene has been reported previously (including reported as delG168due to alternative nomenclature) in association with congenital cataracts (Cohen et al., 2007; Aldahmesh etal., 2012). The c.171delG deletion causes a frameshift starting with codon asparagine 58, changes thisamino acid to a threonine residue, and creates a premature Stop codon at position 107 of the new readingframe, denoted p.N58TfsX107. This variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. The c.171delG deletion was not observedin approximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common variant in these populations. We interpret c.171delG as a pathogenic variant.
Hadassah Hebrew University Medical Center	RCV001254599	SCV001430589	likely pathogenic	Cataract 17	2019-06-20	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000009225	SCV002019746	pathogenic	Cataract 17 multiple types	2022-09-06	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000009225	SCV004806837	likely pathogenic	Cataract 17 multiple types	2024-03-26	criteria provided, single submitter	clinical testing
OMIM	RCV000009225	SCV000029443	pathogenic	Cataract 17 multiple types	2007-05-01	no assertion criteria provided	literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000009225	SCV001190811	pathogenic	Cataract 17 multiple types	2020-02-05	no assertion criteria provided	clinical testing