ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)

dbSNP: rs886044755
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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 RCV000408589 SCV000281937 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV001308733 SCV001498202 pathogenic not provided 2022-07-19 criteria provided, single submitter clinical testing This missense change has been observed in individuals with clinical features of Stargardt disease or cone-rod dystrophy (PMID: 20647261, 28118664; Invitae). For these reasons, this variant has been classified as Pathogenic. 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: 236139). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1943 of the ABCA4 protein (p.Leu1943Pro).

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