ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del)

dbSNP: rs774121522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948437 SCV002199792 uncertain significance not provided 2023-01-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. This variant is present in population databases (rs774121522, gnomAD 0.01%). This variant, c.256_258del, results in the deletion of 1 amino acid(s) of the SLC4A1 protein (p.Glu86del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity RCV001948437 SCV004237338 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016875 SCV005642261 uncertain significance BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2024-03-27 criteria provided, single submitter clinical testing

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