ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)

dbSNP: rs1161119501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073274 SCV001238810 uncertain significance Retinal dystrophy 2018-10-12 criteria provided, single submitter clinical testing
Invitae RCV002549192 SCV003460704 likely pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1941 of the ABCA4 protein (p.His1941Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with maculopathy and/or Stargardt disease (PMID: 25474345, 31456290; Invitae). ClinVar contains an entry for this variant (Variation ID: 812196). 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. 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.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002811 SCV001160824 likely pathogenic maculopathy 2019-06-23 no assertion criteria provided research

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