Submissions for variant NM_177924.5(ASAH1):c.214G>A (p.Val72Met)

gnomAD frequency: 0.42367  dbSNP: rs1071645

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253040	SCV000310084	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343910	SCV000472725	benign	Farber lipogranulomatosis	2018-01-12	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253040	SCV000538360	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 54% of total chromosomes in ExAC
Athena Diagnostics Inc	RCV000675810	SCV000840863	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV000675810	SCV001723152	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000343910	SCV001775183	benign	Farber lipogranulomatosis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554039	SCV001775184	benign	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000675810	SCV001941261	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27026573)
Mayo Clinic Laboratories, Mayo Clinic	RCV000675810	SCV000801532	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000253040	SCV001919652	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000253040	SCV001963440	benign	not specified		no assertion criteria provided	clinical testing