Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692478 | SCV000820303 | pathogenic | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-08-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln276*) 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 reported in combination with another IGHMBP2 variant in an individual affected with SMA with respiratory distress type 1 (PMID: 28202949). ClinVar contains an entry for this variant (Variation ID: 571351). 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. |