ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)

dbSNP: rs201838557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053452 SCV001217712 uncertain significance not provided 2022-10-13 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 598 of the ABCA4 protein (p.Val598Met). This variant is present in population databases (rs201838557, gnomAD 0.02%). This missense change has been observed in individual(s) with retinitis pigementosa or Stargardt disease (PMID: 20647261, 29555955, 32619608). ClinVar contains an entry for this variant (Variation ID: 849480). 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 not expected to disrupt ABCA4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481977 SCV002792478 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-03-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813627 SCV005073010 uncertain significance Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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