ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)

dbSNP: rs1356104318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389283 SCV001590590 pathogenic not provided 2020-07-30 criteria provided, single submitter clinical testing Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This sequence change creates a premature translational stop signal (p.Gln238*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with cone rod dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438107). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505124 SCV000599023 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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