ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)

dbSNP: rs760790294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439383 SCV000511884 likely pathogenic not provided 2021-11-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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: 20647261, 29925512)
Blueprint Genetics RCV001073702 SCV001239261 likely pathogenic Retinal dystrophy 2017-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000439383 SCV002266620 pathogenic not provided 2024-09-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 640 of the ABCA4 protein (p.Pro640Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal recessive inherited retinal dystrophy (PMID: 20647261, 29925512; internal data). ClinVar contains an entry for this variant (Variation ID: 377403). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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