Submissions for variant NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu)

gnomAD frequency: 0.03317  dbSNP: rs2472205

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375398	SCV000472720	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.
Athena Diagnostics Inc	RCV000516525	SCV000612411	benign	not specified	2017-07-17	criteria provided, single submitter	clinical testing
Invitae	RCV000675805	SCV001723640	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675805	SCV001943455	benign	not provided	2018-06-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675805	SCV000801527	benign	not provided	2017-03-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000516525	SCV001923085	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000516525	SCV001927082	benign	not specified		no assertion criteria provided	clinical testing