ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1994del (p.Tyr665fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002876019 SCV003229694 pathogenic not provided 2022-08-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr665Serfs*5) 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).
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004559980 SCV005046942 pathogenic Stargardt disease 3 no assertion criteria provided research

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