ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.1318G>A (p.Gly440Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040887 SCV005667653 uncertain significance Autosomal recessive proximal renal tubular acidosis 2024-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV005283567 SCV005945004 uncertain significance Inborn genetic diseases 2025-02-13 criteria provided, single submitter clinical testing The c.1186G>A (p.G396R) alteration is located in exon 8 (coding exon 8) of the SLC4A4 gene. This alteration results from a G to A substitution at nucleotide position 1186, causing the glycine (G) at amino acid position 396 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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