Submissions for variant NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)

gnomAD frequency: 0.02262  dbSNP: rs76889468

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174595	SCV000225917	benign	not specified	2014-09-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358882	SCV000375424	benign	Mucolipidosis type II	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.
Illumina Laboratory Services, Illumina	RCV000261615	SCV000375425	benign	Pseudo-Hurler polydystrophy	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.
Invitae	RCV001517713	SCV001726275	benign	Mucolipidosis type II; Pseudo-Hurler polydystrophy	2020-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001550515	SCV001770851	likely benign	not provided	2018-07-15	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001550515	SCV001797773	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000174595	SCV001931782	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000358882	SCV002088583	likely benign	Mucolipidosis type II	2019-12-04	no assertion criteria provided	clinical testing