ClinVar Miner

Submissions for variant NC_000001.11:g.94025047CT[1]

dbSNP: rs2101027818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383481 SCV001582632 pathogenic not provided 2020-03-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ABCA4-related conditions. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1514Asnfs*40) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product.

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