ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)

dbSNP: rs886044761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408599 SCV000281957 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001055307 SCV001219694 pathogenic not provided 2024-03-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 2109 of the ABCA4 protein (p.Leu2109Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with ABCA4-related retinal dystrophy (PMID: 28118664, 29555955). ClinVar contains an entry for this variant (Variation ID: 236147). 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 95%. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816433 SCV005072404 likely pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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