ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.505dup (p.Ala169fs)

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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 RCV003024494 SCV003337927 pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala185Glyfs*6) in the SLC4A11 gene. It is expected to result in an absent or disrupted protein product. 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 affected with SLC4A11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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