ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)

gnomAD frequency: 0.00001  dbSNP: rs767980304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073758 SCV001239318 uncertain significance Retinal dystrophy 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001359813 SCV001555698 uncertain significance not provided 2024-10-29 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 1589 of the ABCA4 protein (p.Val1589Met). This variant is present in population databases (rs767980304, gnomAD 0.005%). This missense change has been observed in individual(s) with ABCA4-associated conditions (PMID: 30670881). ClinVar contains an entry for this variant (Variation ID: 866045). Invitae Evidence 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 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 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.
CeGaT Center for Human Genetics Tuebingen RCV001359813 SCV001961121 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505662 SCV002814928 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-11-09 criteria provided, single submitter clinical testing

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