ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.700G>A (p.Ala234Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002967281 SCV003284645 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002967282 SCV003719103 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.700G>A (p.A234T) alteration is located in exon 9 (coding exon 8) of the SLC4A1 gene. This alteration results from a G to A substitution at nucleotide position 700, causing the alanine (A) at amino acid position 234 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010834 SCV005642237 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 2024-06-12 criteria provided, single submitter clinical testing

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