ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1422del (p.Phe475fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003489428 SCV004238673 likely pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003489428 SCV005839159 pathogenic not provided 2024-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe475Serfs*10) in the SLC4A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC4A1 are known to be pathogenic (PMID: 8943874, 10926824, 23255290). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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