ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)

gnomAD frequency: 0.00004  dbSNP: rs201280873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349281 SCV001543616 benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476608 SCV002775214 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 2022-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263992 SCV003946753 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.1160G>A (p.R387Q) alteration is located in exon 11 (coding exon 10) of the SLC4A1 gene. This alteration results from a G to A substitution at nucleotide position 1160, causing the arginine (R) at amino acid position 387 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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