ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)

dbSNP: rs776773510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591912 SCV001816067 pathogenic Severe early-childhood-onset retinal dystrophy 2021-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120640 SCV003786333 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1213969). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 31212395). This sequence change creates a premature translational stop signal (p.Ser1099*) 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).

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