ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)

dbSNP: rs62642562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075475 SCV001241098 likely pathogenic Retinal dystrophy 2018-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085735 SCV001562810 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.His183 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28771251). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 99381). This missense change has been observed in individuals with clinical features of ABCA4-related conditions (PMID: 9973280, 30029497, 33732702). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1838 of the ABCA4 protein (p.His1838Tyr).
Retina International RCV000085735 SCV000117876 not provided not provided no assertion provided not provided

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