Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Broad Center for Mendelian Genomics, |
RCV001267702 | SCV001445953 | likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 1A | 2020-11-16 | criteria provided, single submitter | curation | The heterozygous p.Tyr23Phe variant in SPTLC1 was identified by our study in 1 individual with neuropathy, hereditary sensory and autonomic, type 1A (HSAN1A). Trio genome analysis showed this variant to be de novo. The variant has not been previously reported in individuals with HSAN1A and was absent from large population studies. This variant has also been reported in ClinVar (Variation ID: 450572) as likely pathogenic by GeneDx. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS2, PM2 (Richards 2015). |
| Gene |
RCV000522579 | SCV000619172 | likely pathogenic | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34059824) |
| OMIM | RCV003152607 | SCV003841239 | pathogenic | Amyotrophic lateral sclerosis 27, juvenile | 2023-03-16 | no assertion criteria provided | literature only |