ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)

dbSNP: rs966267709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507724 SCV001713452 likely pathogenic not provided 2020-07-17 criteria provided, single submitter clinical testing PVS1, PM2
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocio RCV001647301 SCV001860342 pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome criteria provided, single submitter research By exome sequencing, two compund heterozygous variants in ASAH1 were identified. One of them, NM_177924.4:c.456ª>C p.(Lys152Asn) in exón 6, had been reported previously in a paciente with SMA-EMP phenotype as a compound heterozygous with the non-sense p.Gly284* by Dyment et al 2014. This variant is not present in databases of normal controls (Genome aggregation database). It lies 2 nucleotides away from the intron-exon boundary, and it was confirmed to cause skipping of exón 6 in skin fibroblast. The second variant detected is the novel NM_177924.4:c3G>T in exón 1. It is absent from population databases, and causes loss of the initiation ATG codon, which is likely to result in loss of mRNA transcription and therefore protein function. Sequencing of both parents´DNA confirmed each of them is heterozygous for one of the variants, confirming the variants are in trans in the patient. We observed absence of ASAH1 protein in muscle by western blot. Both variants are classified as pathogenic (class 5) applying ACGM rules.
Fulgent Genetics, Fulgent Genetics RCV002506589 SCV002808709 likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 2022-03-10 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.