ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu)

gnomAD frequency: 0.00002  dbSNP: rs769176363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658517 SCV000780289 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000658517 SCV001543641 likely pathogenic not provided 2024-01-12 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 196 of the ABCA4 protein (p.Pro196Leu). This variant is present in population databases (rs769176363, gnomAD 0.007%). This missense change has been observed in individual(s) with ABCA4-related conditions and/or Stargardt disease (PMID: 31766579; Invitae). ClinVar contains an entry for this variant (Variation ID: 546603). 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 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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