Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001281677 | SCV001469022 | uncertain significance | Familial renal glucosuria | 2021-01-04 | criteria provided, single submitter | clinical testing | This SLC5A2 variant (rs750441217) is rare (<0.1%) in a large population dataset (gnomAD: 4/241356 total alleles; 0.002%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging, and the leucine residue at this position is highly evolutionarily conserved across all species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.1388T>C to be uncertain at this time. |
Fulgent Genetics, |
RCV001281677 | SCV002782930 | uncertain significance | Familial renal glucosuria | 2021-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537924 | SCV003601537 | uncertain significance | Inborn genetic diseases | 2022-01-04 | criteria provided, single submitter | clinical testing | The c.1388T>C (p.L463P) alteration is located in exon 11 (coding exon 11) of the SLC5A2 gene. This alteration results from a T to C substitution at nucleotide position 1388, causing the leucine (L) at amino acid position 463 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |