ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)

dbSNP: rs62642562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408514 SCV000281927 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV003556287 SCV004292490 pathogenic not provided 2023-03-20 criteria provided, single submitter clinical testing This variant disrupts the p.His1838 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28771251; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 33375396). 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. ClinVar contains an entry for this variant (Variation ID: 236133). This missense change has been observed in individual(s) with ABCA4 associated conditions (PMID: 15192030; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1838 of the ABCA4 protein (p.His1838Asn).

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