Submissions for variant NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys)

gnomAD frequency: 0.00319  dbSNP: rs140139732

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518681	SCV000613698	benign	not provided	2017-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000518681	SCV001052105	benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099542	SCV001256007	benign	Lethal Kniest-like syndrome	2017-06-16	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.
Illumina Laboratory Services, Illumina	RCV001099543	SCV001256008	benign	Schwartz-Jampel syndrome	2017-06-16	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.
GeneDx	RCV000518681	SCV001846293	benign	not provided	2021-03-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25504735)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279304	SCV002566728	benign	Connective tissue disorder	2021-08-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541607	SCV004775144	benign	HSPG2-related disorder	2020-03-18	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).