Submissions for variant NM_000487.6(ARSA):c.583del (p.Trp195fs)

dbSNP: rs398123416

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078948	SCV000110809	pathogenic	not provided	2013-03-27	criteria provided, single submitter	clinical testing
Centogene AG - the Rare Disease Company	RCV001251199	SCV001426592	pathogenic	Metachromatic leukodystrophy		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001251199	SCV001592676	pathogenic	Metachromatic leukodystrophy	2023-12-21	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp195Glyfs*5) in the ARSA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with metachromatic leukodystrophy (PMID: 26462614). ClinVar contains an entry for this variant (Variation ID: 93124). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000078948	SCV004011420	pathogenic	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ARSA: PVS1, PM3:Strong, PM2, PP4
Gene Mapping Laboratory, Hacettepe University	RCV001251199	SCV001441275	pathogenic	Metachromatic leukodystrophy		no assertion criteria provided	research	Clinical features, enzyme activities and urinary sulfatide levels are compatible with metachromatic leukodystrophy