Submissions for variant NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)

gnomAD frequency: 0.87079  dbSNP: rs10103355

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245912	SCV000310091	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310101	SCV000472713	benign	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 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	RCV000245912	SCV000538357	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: 94% of total chromosomes in ExAC
GeneDx	RCV000675803	SCV000979480	benign	not provided	2018-06-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000675803	SCV001723149	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000310101	SCV001774917	benign	Farber lipogranulomatosis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553844	SCV001774918	benign	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500901	SCV002812602	benign	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis	2022-03-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675803	SCV000801525	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000245912	SCV001919498	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000245912	SCV001963186	benign	not specified		no assertion criteria provided	clinical testing