Submissions for variant NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)

dbSNP: rs1057518955

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000414893	SCV000493013	pathogenic	Visual impairment; Retinal disorder	2014-02-17	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074613	SCV001240204	likely pathogenic	Retinal dystrophy	2019-01-17	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001196665	SCV001367291	pathogenic	Age related macular degeneration 2	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001268822	SCV001448015	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001268822	SCV002245746	pathogenic	not provided	2021-07-26	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 374183). This variant is also known as c.5174_5175insG. This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 24550365, 31212395). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1726Aspfs*61) 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).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074613	SCV005070701	pathogenic	Retinal dystrophy	2019-01-01	no assertion criteria provided	clinical testing