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

gnomAD frequency: 0.00003  dbSNP: rs571740084

Total submissions: 6

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