ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)

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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 RCV003665440 SCV004374962 pathogenic not provided 2023-02-07 criteria provided, single submitter clinical testing 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. This missense change has been observed in individual(s) with Stargardt disease (PMID: 32845068). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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 1829 of the ABCA4 protein (p.Leu1829Pro).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796834 SCV005418111 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 criteria provided, single submitter clinical testing PM2_Supporting+PP3+PP4

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