Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591450 | SCV000708639 | uncertain significance | not provided | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532642 | SCV003732489 | uncertain significance | Inborn genetic diseases | 2021-07-27 | criteria provided, single submitter | clinical testing | The c.6040A>G (p.M2014V) alteration is located in exon 44 (coding exon 44) of the ABCA4 gene. This alteration results from a A to G substitution at nucleotide position 6040, causing the methionine (M) at amino acid position 2014 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV000591450 | SCV004625788 | uncertain significance | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2014 of the ABCA4 protein (p.Met2014Val). This variant is not present in population databases (gnomAD no frequency). 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: 502046). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |