ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)

gnomAD frequency: 0.00004  dbSNP: rs61752430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085608 SCV001207903 pathogenic not provided 2023-08-30 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99255). This missense change has been observed in individuals with clinical features of Stargardt disease and/or cone rod dystrophy (PMID: 11846518; Invitae). This variant is present in population databases (rs61752430, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1390 of the ABCA4 protein (p.Leu1390Pro).
Blueprint Genetics RCV001075006 SCV001240616 likely pathogenic Retinal dystrophy 2018-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000085608 SCV003918402 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Identified in patients with retinal dystrophy in published literature who also had additional variant(s) in ABCA4, although segregation data was not available in some cases (Birch et al., 2001; Alapati et al., 2014; Midgley et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34954332, 25082885, 11846518, 32913387)
Retina International RCV000085608 SCV000117747 not provided not provided no assertion provided not provided

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