Submissions for variant NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

gnomAD frequency: 0.00100  dbSNP: rs201150919

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377526	SCV000359555	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283229	SCV000359556	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347578	SCV000359557	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400700	SCV000359558	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100157	SCV001256663	uncertain significance	ABCA4-related disorder	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV001520655	SCV001729814	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001520655	SCV002032723	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed with additional variants in the ABCA4 gene in individuals with Stargardt disease or retinitis pigmentosa in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in all cases (Schulz et al., 2017; Schroeder et al., 2018; Huang et al., 2018); This variant is associated with the following publications: (PMID: 28118664, 29386879, 29641573)
CeGaT Center for Human Genetics Tuebingen	RCV001520655	SCV003916472	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ABCA4: BP4, BS2
Dept Of Ophthalmology, Nagoya University	RCV003888650	SCV004706838	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research