ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)

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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 RCV002648183 SCV003523340 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individuals with ABCA4-related conditions (PMID: 28118664, 29925512). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the ABCA4 mRNA. The next in-frame methionine is located at codon 61.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324587 SCV004030354 likely pathogenic Stargardt disease 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0

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