Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| MVZ Dr. |
RCV003582173 | SCV004363602 | uncertain significance | Spherocytosis | 2022-11-30 | criteria provided, single submitter | clinical testing | This variant was not present in variant databases (such as ClinVar, LOVD3 and HGMD). In silico algorithms did not show a deleterious effect on the gene product. The variant was present in control databases such as GnomAD with a frequency of 0.0018 % in different ethnicities. |
| Labcorp Genetics |
RCV003720943 | SCV004514811 | uncertain significance | not provided | 2024-03-02 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 594 of the SLC4A1 protein (p.Ser594Arg). This variant is present in population databases (rs748352642, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC4A1 protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004371491 | SCV004952578 | uncertain significance | Inborn genetic diseases | 2022-12-15 | criteria provided, single submitter | clinical testing | The c.1782C>G (p.S594R) alteration is located in exon 14 (coding exon 13) of the SLC4A1 gene. This alteration results from a C to G substitution at nucleotide position 1782, causing the serine (S) at amino acid position 594 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005013064 | SCV005640045 | 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 | 2024-05-10 | criteria provided, single submitter | clinical testing |