Submissions for variant NM_000263.4(NAGLU):c.675G>T (p.Leu225=)

gnomAD frequency: 0.00469  dbSNP: rs115680529

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000352741	SCV000402904	likely benign	Mucopolysaccharidosis, MPS-III-B	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000974680	SCV001122519	benign	Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001564877	SCV001788116	likely benign	not provided	2021-02-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001564877	SCV004138370	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	NAGLU: BP4, BP7, BS1, BS2
Natera, Inc.	RCV000352741	SCV001458028	benign	Mucopolysaccharidosis, MPS-III-B	2019-11-11	no assertion criteria provided	clinical testing