ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1696del (p.His566fs)

dbSNP: rs756623639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000080 SCV002230109 pathogenic not provided 2021-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His566Thrfs*2) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs756623639, ExAC 0.006%). This variant has not been reported in the literature in individuals with ABCA4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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