ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys)

gnomAD frequency: 0.00006  dbSNP: rs55840505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213064 SCV001384680 uncertain significance not provided 2025-02-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 152 of the SLC4A1 protein (p.Glu152Lys). This variant is present in population databases (rs55840505, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 942972). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC4A1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002504253 SCV002816543 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 2024-05-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001213064 SCV004237335 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033872 SCV004952584 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.454G>A (p.E152K) alteration is located in exon 6 (coding exon 5) of the SLC4A1 gene. This alteration results from a G to A substitution at nucleotide position 454, causing the glutamic acid (E) at amino acid position 152 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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