Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623030 | SCV000741689 | pathogenic | Inborn genetic diseases | 2016-07-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760313 | SCV000890168 | pathogenic | not provided | 2018-11-19 | criteria provided, single submitter | clinical testing | The R147X variant in the IGHMBP2 gene has been reported previously in association with spinal muscular atrophy with respiratory distress type 1 (SMARD1) in patients with a second IGHBMP2 pathogenic variant on the opposite allele (Grohmann et al., 2003; Jedrzejowska et al., 2014; San Millan et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R147X variant is observed in 1/9850 (0.01%) alleles in individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). We interpret R147X as a pathogenic variant. |
Invitae | RCV000806942 | SCV000946966 | pathogenic | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg147*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another IGHMBP2 variant in several individuals affected with autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) (PMID: 14681881, 26709713, 24388491). ClinVar contains an entry for this variant (Variation ID: 521206). Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000760313 | SCV001245952 | pathogenic | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000789338 | SCV000928691 | uncertain significance | Autosomal dominant distal hereditary motor neuropathy | no assertion criteria provided | literature only |