ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.287del (p.Asn96fs)

dbSNP: rs1553196583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio Extremeño de Salud, Hospital de Mérida RCV000656498 SCV000693677 pathogenic Severe early-childhood-onset retinal dystrophy 2018-03-05 criteria provided, single submitter clinical testing Found in two patients from the same family with Stargardt disease. This mutation was in trans with two other known mutations causing Stargardt dissease, rs41292677 and rs281865377, that were in the same allele.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861674 SCV002240485 pathogenic not provided 2021-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn96Thrfs*19) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with inherited retinal dystrophy (PMID: 23940504). ClinVar contains an entry for this variant (Variation ID: 545516).

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