ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)

dbSNP: rs1437993640
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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 RCV001388592 SCV001589645 pathogenic not provided 2020-11-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 24713488). ClinVar contains an entry for this variant (Variation ID: 812200). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1723*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002820 SCV001160835 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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