Submissions for variant NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)

gnomAD frequency: 0.00002  dbSNP: rs55732384

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000408452	SCV000281800	likely pathogenic	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000763051	SCV000893532	pathogenic	Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085427	SCV001219642	pathogenic	not provided	2024-07-31	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 60 of the ABCA4 protein (p.Ala60Val). This variant is present in population databases (rs55732384, gnomAD 0.007%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 28118664, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99083). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001073359	SCV001238900	pathogenic	Retinal dystrophy	2018-12-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000085427	SCV004032963	likely pathogenic	not provided	2023-08-01	criteria provided, single submitter	clinical testing	ABCA4: PM1, PM2, PM3, PM5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001073359	SCV005070530	likely pathogenic	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing
Retina International	RCV000085427	SCV000117564	not provided	not provided		no assertion provided	not provided
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000408452	SCV004801149	uncertain significance	Severe early-childhood-onset retinal dystrophy	2024-03-14	flagged submission	research
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	RCV004558304	SCV005046925	pathogenic	Stargardt disease 3		no assertion criteria provided	research