Submissions for variant NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)

dbSNP: rs1365926616

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001075436	SCV001241059	likely pathogenic	Retinal dystrophy	2018-08-27	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376469	SCV001573621	pathogenic	Retinitis pigmentosa 45	2021-04-08	criteria provided, single submitter	research	The CNGB1 c.3131_3149del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001381259	SCV001579580	pathogenic	not provided	2023-11-14	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ala1044Glyfs*13) in the CNGB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 866991). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001075436	SCV005070212	pathogenic	Retinal dystrophy	2022-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001376469	SCV005640250	pathogenic	Retinitis pigmentosa 45	2024-02-15	criteria provided, single submitter	clinical testing