ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)

gnomAD frequency: 0.00039  dbSNP: rs61748545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085874 SCV000321334 likely pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing 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: 25066811, 11527935, 19074458, 28041643, 32581362)
Blueprint Genetics RCV001075838 SCV001241477 likely pathogenic Retinal dystrophy 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV000085874 SCV001382437 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 309 of the ABCA4 protein (p.Pro309Arg). This variant is present in population databases (rs61748545, gnomAD 0.2%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 25066811; Invitae). ClinVar contains an entry for this variant (Variation ID: 99513). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085874 SCV000118017 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504769 SCV000599027 likely pathogenic Macular dystrophy 2015-01-01 no assertion criteria provided research

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