ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met)

gnomAD frequency: 0.00001  dbSNP: rs150340150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001843689 SCV002102799 likely pathogenic Autosomal dominant distal renal tubular acidosis 2022-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543276 SCV003703107 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.2656C>A (p.L886M) alteration is located in exon 20 (coding exon 19) of the SLC4A1 gene. This alteration results from a C to A substitution at nucleotide position 2656, causing the leucine (L) at amino acid position 886 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006085 SCV005640011 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 2024-03-26 criteria provided, single submitter clinical testing

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