Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Centre for Mendelian Genomics, |
RCV001197171 | SCV001367807 | likely pathogenic | Autosomal recessive distal spinal muscular atrophy 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: Ps1,PM2,PP3. |
| Rady Children's Institute for Genomic Medicine, |
RCV001267649 | SCV001445867 | pathogenic | Spinal muscular atrophy | 2019-06-17 | criteria provided, single submitter | clinical testing | This frameshifting variant in exon 3 of 15 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported as a compound heterozygous change in two unrelated patients and as a homozygous change in one patient, all reported with Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) (PMID: 14681881, 16964485). The p.Arg130Ter variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.388C>T (p.Arg130Ter) variant is classified as Pathogenic. |
| Labcorp Genetics |
RCV001869221 | SCV002245902 | pathogenic | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-02-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg130*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of IGHMBP2-related conditions (PMID: 14681881, 16964485). ClinVar contains an entry for this variant (Variation ID: 637263). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001869221 | SCV005630252 | pathogenic | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-05-21 | criteria provided, single submitter | clinical testing | |
| Inherited Neuropathy Consortium | RCV000789337 | SCV000928690 | uncertain significance | Neuronopathy, distal hereditary motor, autosomal dominant | no assertion criteria provided | literature only |