ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)

gnomAD frequency: 0.00003  dbSNP: rs61753032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085760 SCV001408695 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1921 of the ABCA4 protein (p.Val1921Met). This variant is present in population databases (rs61753032, gnomAD 0.03%). This missense change has been observed in individual(s) with autosomal recessive macular dystrophy and/or Stargardt disease (PMID: 28341476, 32619608, 33261146). ClinVar contains an entry for this variant (Variation ID: 99406). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000085760 SCV001802388 likely pathogenic not provided 2021-03-15 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: 14517951, 28341476, 33261146, 23755871, 32845068, 32619608, 23591405, 28044389, 10958763)
Retina International RCV000085760 SCV000117901 not provided not provided no assertion provided not provided

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