ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)

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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 RCV003716878 SCV004504633 pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val2236Serfs*15) 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).
Fulgent Genetics, Fulgent Genetics RCV005030190 SCV005656831 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-03-13 criteria provided, single submitter clinical testing

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