ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)

dbSNP: rs1659427600
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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 RCV001242691 SCV001415794 pathogenic not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1987*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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.
Fulgent Genetics, Fulgent Genetics RCV002504344 SCV002809755 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-02-16 criteria provided, single submitter clinical testing

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