ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)

dbSNP: rs1553188916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860463 SCV002135382 pathogenic not provided 2023-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1523*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 31318848). ClinVar contains an entry for this variant (Variation ID: 522465). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002289913 SCV002581781 pathogenic Severe early-childhood-onset retinal dystrophy 2022-08-11 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625606 SCV000746106 pathogenic Cone-rod dystrophy 3 2017-09-18 no assertion criteria provided clinical testing

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