ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs)

dbSNP: rs1553187228
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498153 SCV000589298 pathogenic not provided 2016-05-12 criteria provided, single submitter clinical testing The c.5867_5870delACAG deletion in the ABCA4 gene causes a frameshift starting with codon Aspartic Acid 1956, changes this amino acid to an Glycine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Asp1956GlyfsX17. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we interpret it as pathogenic.

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