ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.670_671insA (p.Trp224Ter)

dbSNP: rs1600592887
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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 RCV000806080 SCV000946061 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp240*) in the SLC4A11 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 nonsense change has been observed in an individual with congenital hereditary endothelial dystrophy (PMID: 17397048). Loss-of-function variants in SLC4A11 are known to be pathogenic (PMID: 17220209, 17679935). For these reasons, this variant has been classified as Pathogenic.

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