Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000757430 | SCV000885648 | uncertain significance | not provided | 2018-06-17 | criteria provided, single submitter | clinical testing | The LBR c.851C>T; p.Thr284Met variant (rs371750924), to our knowledge, is not reported in the medical literature or in gene specific databases, but is observed in the general population at an overall frequency of 0.008% (21/264498 alleles) with increased frequency in the Latino population (0.05%) in the Genome Aggregation Database. The threonine at codon 284 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. Pathogenic LBR variants are associated with autosomal recessive Greenberg skeletal dysplasia (MIM;215140) and autosomal dominant Pelger-Huet anomaly (MIM:169400). If this variant is later found to be pathogenic, this individual is predicted to either be a carrier of Greenberg skeletal dysplasia or affected with Pelger-Huet anomaly. |
| Invitae | RCV000757430 | SCV001659756 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002533805 | SCV003714331 | uncertain significance | Inborn genetic diseases | 2021-10-20 | criteria provided, single submitter | clinical testing | The c.851C>T (p.T284M) alteration is located in exon 7 (coding exon 6) of the LBR gene. This alteration results from a C to T substitution at nucleotide position 851, causing the threonine (T) at amino acid position 284 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |