ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)

dbSNP: rs794727903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180146 SCV000232534 pathogenic not provided 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV000180146 SCV004540148 pathogenic not provided 2023-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln294*) 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 Stargardt disease (PMID: 29975949). ClinVar contains an entry for this variant (Variation ID: 198720). For these reasons, this variant has been classified as Pathogenic.

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