ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)

gnomAD frequency: 0.00003  dbSNP: rs571740084
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Total submissions: 6
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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 RCV001843690 SCV002102801 likely pathogenic Renal tubular acidosis, distal, 4, with hemolytic anemia 2022-03-07 criteria provided, single submitter clinical testing
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001847375 SCV002104238 likely pathogenic Autosomal recessive distal renal tubular acidosis 2022-03-14 criteria provided, single submitter clinical testing The variant has been identified in a homozygous form in a female patient who had a disease onset at 24 months of age. Her unaffected parents are heterozygous carriers. She presented with classic features of distal renal tubular acidosis
Invitae RCV002543277 SCV003280624 benign not provided 2022-10-19 criteria provided, single submitter clinical testing
GeneDx RCV002543277 SCV003806075 likely benign not provided 2021-05-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Neuberg Centre For Genomic Medicine, NCGM RCV001843690 SCV004176696 uncertain significance Renal tubular acidosis, distal, 4, with hemolytic anemia criteria provided, single submitter clinical testing The missense c.713A>T p.Glu238Val variant in SLC4A1 gene has been reported previously in homozygous state in individuals affected with SLC4A1-related disorder. The p.Glu238Val variant is reported with an allele frequency of 0.2% in the gnomAD exomes database. This variant has been reported to the ClinVar database as Likely Benign / Benign / Likely Pathogenic. The amino acid change p.Glu238Val in SLC4A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 238 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS. In the absence of another reportable variant in SLC4A1 gene, the molecular diagnosis is not confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV002543277 SCV004224380 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing BS2

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