Submissions for variant NM_000350.3(ABCA4):c.834del (p.Asp279fs)

dbSNP: rs779743222

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001008400	SCV001168169	pathogenic	not provided	2022-04-28	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Blueprint Genetics	RCV001074665	SCV001240257	pathogenic	Retinal dystrophy	2019-03-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001008400	SCV001387181	pathogenic	not provided	2023-11-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asp279Ilefs*21) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs779743222, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 812208). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001002846	SCV001160868	pathogenic	Stargardt disease	2019-06-23	no assertion criteria provided	research
Genomics England Pilot Project, Genomics England	RCV001542646	SCV001760057	likely pathogenic	Retinitis pigmentosa 19		no assertion criteria provided	clinical testing