ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)

dbSNP: rs2100994049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001526707 SCV001737129 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-05-19 criteria provided, single submitter clinical testing
Invitae RCV002568845 SCV003343829 uncertain significance not provided 2022-09-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1172702). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 2103 of the ABCA4 protein (p.Pro2103His).
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002469401 SCV002765144 pathogenic Stargardt disease 2022-12-20 no assertion criteria provided research PM1,PP2,PM2,PP3,PP5 ACMG Criteria

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