Submissions for variant NM_000487.6(ARSA):c.495G>A (p.Pro165=)

dbSNP: rs145299072

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001144537	SCV001305142	benign	Metachromatic leukodystrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001144537	SCV001717368	benign	Metachromatic leukodystrophy	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001253878	SCV001772129	likely benign	not provided	2021-06-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700979	SCV001920654	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700979	SCV001973280	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001144537	SCV002081676	benign	Metachromatic leukodystrophy	2019-11-11	no assertion criteria provided	clinical testing