Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988188 | SCV001137822 | likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560232 | SCV001782597 | likely pathogenic | not provided | 2019-08-14 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34059824) |
Labcorp Genetics |
RCV001858688 | SCV002213359 | pathogenic | Hereditary sensory and autonomic neuropathy type 1 | 2021-09-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects SPTLC1 function (PMID: 34059824). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant has been observed in individual(s) with juvenile ALS (PMID: 34059824; Invitae). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This variant, c.115_117del, results in the deletion of 1 amino acid(s) of the SPTLC1 protein (p.Leu39del), but otherwise preserves the integrity of the reading frame. |
Institute of Human Genetics Munich, |
RCV002468610 | SCV002764914 | likely pathogenic | Proximal muscle weakness; Falls; Muscle spasm; EMG abnormality; Proximal lower limb amyotrophy | 2022-03-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001560232 | SCV003819743 | pathogenic | not provided | 2021-11-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV003152613 | SCV003841241 | pathogenic | Amyotrophic lateral sclerosis 27, juvenile | 2023-03-16 | no assertion criteria provided | literature only | |
Solve- |
RCV000988188 | SCV005200025 | likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1A | 2022-06-01 | no assertion criteria provided | provider interpretation | Variant confirmed as disease-causing by referring clinical team |