ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)

dbSNP: rs761209432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986377 SCV001135367 pathogenic Severe early-childhood-onset retinal dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092967 SCV005795166 pathogenic not provided 2024-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp12*) 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 ABCA4-related conditions (PMID: 29854428, 35120629). ClinVar contains an entry for this variant (Variation ID: 801520). For these reasons, this variant has been classified as Pathogenic.

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