Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000853062 | SCV000994992 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | Reported as T351M due to the use of alternative nomenclature in an individual with Parkinson disease; however, additional clinical information was not provided and a second ASAH1 variant was not described (Robak et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29140481) |
Labcorp Genetics |
RCV000853062 | SCV001098271 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001159010 | SCV001320691 | uncertain significance | Farber lipogranulomatosis | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Mayo Clinic Laboratories, |
RCV000853062 | SCV005409410 | uncertain significance | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | BS1 |
Diagnostic Laboratory, |
RCV000853062 | SCV001742040 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000853062 | SCV001922322 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000853062 | SCV001972640 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004549916 | SCV004762011 | likely benign | ASAH1-related disorders | 2022-02-11 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |