Submissions for variant NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)

gnomAD frequency: 0.48362  dbSNP: rs743616

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078937	SCV000110798	benign	not specified	2015-03-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078937	SCV000304455	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020311	SCV000439431	benign	Metachromatic leukodystrophy	2018-03-06	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.
Mendelics	RCV000020311	SCV001141460	benign	Metachromatic leukodystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020311	SCV001728099	benign	Metachromatic leukodystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020311	SCV001775284	benign	Metachromatic leukodystrophy	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000675747	SCV001888198	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31694723, 29961769, 11941485, 1670590, 20220177)
Breakthrough Genomics, Breakthrough Genomics	RCV000675747	SCV005277403	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020311	SCV000040686	not provided	Metachromatic leukodystrophy		no assertion provided	literature only
Mayo Clinic Laboratories, Mayo Clinic	RCV000675747	SCV000801465	uncertain significance	not provided	2015-10-22	no assertion criteria provided	clinical testing
SingHealth Duke-NUS Institute of Precision Medicine	RCV000020311	SCV000853181	benign	Metachromatic leukodystrophy	2017-06-07	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078937	SCV001742599	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078937	SCV001923929	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078937	SCV001932021	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078937	SCV001951974	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000020311	SCV002081640	benign	Metachromatic leukodystrophy	2019-11-18	no assertion criteria provided	clinical testing
Gelb Laboratory, University of Washington	RCV000020311	SCV005046771	not provided	Metachromatic leukodystrophy		no assertion provided	in vitro