Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Cyto- |
RCV001843690 | SCV002102801 | likely pathogenic | Renal tubular acidosis, distal, 4, with hemolytic anemia | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Laboratory of Cyto- |
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 | |
Gene |
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, |
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, |
RCV002543277 | SCV004224380 | uncertain significance | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing | BS2 |