Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797276 | SCV000936825 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 | 2020-11-11 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this sequence change increases expression of the SIGMAR1 gene (PMID: 21031579). This variant has been observed to segregate with frontotemporal lobar degeneration and motor neuron disease (FTLD-MND) in a family (PMID: 21031579). This variant is also known as c.672*51G>T. ClinVar contains an entry for this variant (Variation ID: 643550). This variant is present in population databases (rs768783740, ExAC 0.002%). This sequence change falls in the 3'-untranslated region (UTR) of the SIGMAR1 gene. It does not directly change the encoded amino acid sequence of the SIGMAR1 protein. |