Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001163940 | SCV001326030 | uncertain significance | Farber lipogranulomatosis | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV001338988 | SCV001532700 | uncertain significance | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 382 of the ASAH1 protein (p.Glu382Lys). This variant is present in population databases (rs148976489, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ASAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 911466). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ASAH1 protein function with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Mayo Clinic Laboratories, |
RCV001338988 | SCV001713449 | uncertain significance | not provided | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480573 | SCV002791069 | uncertain significance | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001338988 | SCV004164434 | uncertain significance | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ASAH1: PM2:Supporting |