ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2863G>A (p.Glu955Lys) (rs765680067)

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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 RCV000755764 SCV000883318 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing The ABCA4 c.2863G>A; p.Glu955Lys variant (rs765680067), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is reported in the Genome Aggregation Database in 5 out of 246,136, indicating it is not a common polymorphism. The glutamine at codon 955 is conserved and computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Considering available information, there is insufficient evidence to classify this 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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