ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136806 SCV003821428 uncertain significance not provided 2022-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004963560 SCV005504987 uncertain significance Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing The c.1492A>C (p.I498L) alteration is located in exon 13 (coding exon 12) of the SLC4A1 gene. This alteration results from a A to C substitution at nucleotide position 1492, causing the isoleucine (I) at amino acid position 498 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011242 SCV005640059 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 2024-04-23 criteria provided, single submitter clinical testing

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