ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.3223C>T (p.Arg1075Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002956577 SCV003691082 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.3091C>T (p.R1031C) alteration is located in exon 22 (coding exon 22) of the SLC4A4 gene. This alteration results from a C to T substitution at nucleotide position 3091, causing the arginine (R) at amino acid position 1031 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481422 SCV004226989 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing PP2
Fulgent Genetics, Fulgent Genetics RCV005036600 SCV005665576 uncertain significance Autosomal recessive proximal renal tubular acidosis 2024-02-02 criteria provided, single submitter clinical testing

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