ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met) (rs1184801813)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756941 SCV000884933 uncertain significance not provided 2018-06-23 criteria provided, single submitter clinical testing The ABCA4 c.6426C>G; p.Ile2142Met variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 2142 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Considering available information, there is insufficient evidence to classify the variant with certainty. Pathogenic ABCA4 variants are causative for autosomal recessive cone-rod dystrophy (MIM: 604116), fundus flavimaculatus (MIM: 248200), early onset severe retinal dystrophy (MIM: 248200), retinitis pigmentosa (MIM: 248200), or Stargardt disease (MIM: 248200).

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