Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000085694 | SCV000202088 | uncertain significance | not provided | 2014-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085694 | SCV000511905 | uncertain significance | not provided | 2024-05-02 | criteria provided, single submitter | clinical testing | Identified as a single het variant or phase unknown with other ABCA4 variants in patients with ABCA4-related disorders in published literature (PMID: 28224992, 29925512, 25999674, 24071957); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35120629, 31964843, 29925512, 14517951, 25999674, 29706639, 24071957, 34426522, 25066811, 28224992) |
Mendelics | RCV000986353 | SCV001135336 | uncertain significance | Severe early-childhood-onset retinal dystrophy | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000085694 | SCV001206561 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073381 | SCV001238922 | uncertain significance | Retinal dystrophy | 2019-01-05 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001099771 | SCV001256251 | uncertain significance | ABCA4-related disorder | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Prevention |
RCV001099771 | SCV004118290 | uncertain significance | ABCA4-related disorder | 2023-03-06 | criteria provided, single submitter | clinical testing | The ABCA4 c.5056G>A variant is predicted to result in the amino acid substitution p.Val1686Met. This variant has been reported along with a second ABCA4 variant in several individuals with Stargardt disease (Zernant et al. 2014. PubMed ID: 25066811; Table S1 in Fujinami et al. 2018. PubMed ID: 29925512; Duncker et al. 2013. PubMed ID: 24071957; van Huet et al. 2015. PubMed ID: 25999674). This variant is reported in 0.74% of alleles in individuals of Ashkenazi Jewish descent and with a global allele frequency of 0.053% in gnomAD (http://gnomad.broadinstitute.org/variant/1-94485278-C-T), which is relatively common. This variant has conflicting classifications in ClinVar ranging from pathogenic to benign. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the conflicting population genetic frequencies and the clinical genetic evidence. |
Retina International | RCV000085694 | SCV000117834 | not provided | not provided | no assertion provided | not provided |