ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.563_564del (p.Thr188fs)

dbSNP: rs763953036
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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 RCV001243156 SCV001416293 pathogenic not provided 2019-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC4A11 are known to be pathogenic (PMID: 17220209, 17679935). This variant has not been reported in the literature in individuals with SLC4A11-related conditions. This variant is present in population databases (rs763953036, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Thr204Serfs*42) in the SLC4A11 gene. It is expected to result in an absent or disrupted protein product.

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