ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys)

gnomAD frequency: 0.00003  dbSNP: rs765891978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002331 SCV001160232 uncertain significance not specified 2019-02-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424529 SCV004140659 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003424529 SCV004237341 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003424529 SCV004264645 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 388 of the SLC4A1 protein (p.Arg388Cys). This variant is present in population databases (rs765891978, gnomAD 0.006%). This missense change has been observed in individual(s) with distal renal tubular acidosis (PMID: 30554219). ClinVar contains an entry for this variant (Variation ID: 811881). 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 expected to disrupt SLC4A1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects SLC4A1 function (PMID: 30554219). 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.
Breakthrough Genomics, Breakthrough Genomics RCV003424529 SCV005192900 uncertain significance not provided criteria provided, single submitter not provided

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