Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001329156 | SCV001520505 | uncertain significance | Dent disease type 2 | 2020-04-02 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Ambry Genetics | RCV004035664 | SCV002629606 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.428C>T (p.S143F) alteration is located in exon 6 (coding exon 6) of the OCRL gene. This alteration results from a C to T substitution at nucleotide position 428, causing the serine (S) at amino acid position 143 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002476540 | SCV002777680 | uncertain significance | Dent disease type 2; Lowe syndrome | 2021-10-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002546307 | SCV003505157 | likely benign | Lowe syndrome | 2025-01-23 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003938635 | SCV004757324 | uncertain significance | OCRL-related disorder | 2024-01-16 | no assertion criteria provided | clinical testing | The OCRL c.428C>T variant is predicted to result in the amino acid substitution p.Ser143Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0036% of alleles in individuals of Latino descent in gnomAD, including one hemizygous individual. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |