Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002549656 | SCV003460791 | pathogenic | not provided | 2023-06-22 | criteria provided, single submitter | clinical testing | This variant is also known as c.466C>T; p.Arg156*. This premature translational stop signal has been observed in individual(s) with spinal muscular atrophy (PMID: 33931933). This variant is present in population databases (rs183415577, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg128*) in the ASCC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASCC1 are known to be pathogenic (PMID: 30327447). ClinVar contains an entry for this variant (Variation ID: 801334). For these reasons, this variant has been classified as Pathogenic. |
| Illumina Laboratory Services, |
RCV000986101 | SCV004801401 | pathogenic | Spinal muscular atrophy with congenital bone fractures 2 | 2021-01-12 | criteria provided, single submitter | clinical testing | The ASCC1 c.466C>T p.(Arg156Ter) nonsense variant is expected to result in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in individuals with a phenotype consistent with spinal muscular atrophy with congenital bone fractures (Bohm et al. 2019; Rosano et al. 2021). The highest frequency of this allele in the Genome Aggregation Database is 0.0001204 in the African/African American population (version 2.1.1). Based on the collective evidence the c.466C>T p.(Arg156Ter) variant is classified as pathogenic for spinal muscular atrophy with congenital bone fractures |
| OMIM | RCV000986101 | SCV001134939 | pathogenic | Spinal muscular atrophy with congenital bone fractures 2 | 2020-01-03 | no assertion criteria provided | literature only |