ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.239G>C (p.Arg80Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004966362 SCV005504990 uncertain significance Inborn genetic diseases 2024-10-22 criteria provided, single submitter clinical testing The c.239G>C (p.R80P) alteration is located in exon 5 (coding exon 4) of the SLC4A1 gene. This alteration results from a G to C substitution at nucleotide position 239, causing the arginine (R) at amino acid position 80 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006599 SCV005642262 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 2024-06-14 criteria provided, single submitter clinical testing

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