Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000414681 | SCV000491256 | pathogenic | not provided | 2023-03-24 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18535845, 9618165, 25898926, 33692073) |
| Labcorp Genetics |
RCV000414681 | SCV001588941 | pathogenic | not provided | 2023-07-28 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individuals with clinical features of nail-patella syndrome (PMID: 9618165; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg231*) in the LMX1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMX1B are known to be pathogenic (PMID: 9590287, 15498463). This variant is also known as p.Arg208Ter. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 7006). |
| Ambry Genetics | RCV004639120 | SCV005132785 | pathogenic | Inborn genetic diseases | 2024-04-15 | criteria provided, single submitter | clinical testing | The c.691C>T (p.R231*) alteration, located in exon 4 (coding exon 4) of the LMX1B gene, consists of a C to T substitution at nucleotide position 691. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 231. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. for nail patella syndrome; however, its clinical significance for LMX1B-related focal segmental glomerulosclerosisis is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration, referred to as "Arg208Ter", was reported in a family with nail patella syndrome (Vollrath, 1998). Based on the available evidence, this alteration is classified as pathogenic. |
| OMIM | RCV000007421 | SCV000027621 | pathogenic | Nail-patella syndrome | 1998-07-01 | no assertion criteria provided | literature only |