Submissions for variant NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004526458	SCV005040116	pathogenic	Retinitis pigmentosa	2024-03-07	criteria provided, single submitter	clinical testing	Variant summary: ABCA4 c.2055delC (p.Leu686X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251224 control chromosomes. c.2055delC has been reported in the literature in individuals affected with Cone-Rod dystrophy (Huang_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 26992781). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005023563	SCV005661339	pathogenic	Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19	2024-03-08	criteria provided, single submitter	clinical testing