ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)

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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 RCV003702619 SCV004466158 uncertain significance not provided 2023-08-24 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC4A1 protein function. This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. This variant is present in population databases (rs768031591, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 376 of the SLC4A1 protein (p.Gly376Asp).
Ambry Genetics RCV004371889 SCV004952575 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.1127G>A (p.G376D) alteration is located in exon 11 (coding exon 10) of the SLC4A1 gene. This alteration results from a G to A substitution at nucleotide position 1127, causing the glycine (G) at amino acid position 376 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005013109 SCV005640074 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 2024-05-04 criteria provided, single submitter clinical testing

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