Submissions for variant NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His)

gnomAD frequency: 0.00293  dbSNP: rs41311989

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000403852	SCV000337187	benign	not specified	2015-11-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385287	SCV000354889	likely benign	Schwartz-Jampel syndrome	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.
Illumina Laboratory Services, Illumina	RCV000293392	SCV000354890	likely benign	Lethal Kniest-like syndrome	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.
Athena Diagnostics	RCV000403852	SCV000613729	likely benign	not specified	2016-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000893537	SCV001037479	benign	not provided	2025-01-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000893537	SCV001472505	benign	not provided	2023-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000893537	SCV001502506	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	HSPG2: BP4
GeneDx	RCV000893537	SCV001863432	benign	not provided	2021-01-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25504735)
Breakthrough Genomics, Breakthrough Genomics	RCV000893537	SCV005262565	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004535323	SCV004750611	benign	HSPG2-related disorder	2019-07-01	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).