ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)

dbSNP: rs377398404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869182 SCV002183311 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1566 of the ABCA4 protein (p.Leu1566Phe). 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. 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: 635493). This missense change has been observed in individual(s) with Stargardt disease (PMID: 30060493). This variant is present in population databases (rs377398404, gnomAD 0.0009%).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786954 SCV000925859 uncertain significance Cone-rod dystrophy 3 2018-10-09 no assertion criteria provided clinical testing

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