Submissions for variant NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg)

gnomAD frequency: 0.00088  dbSNP: rs144496753

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000889501	SCV001033189	likely benign	not provided	2024-06-13	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000889501	SCV003811295	uncertain significance	not provided	2019-06-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000889501	SCV004169064	uncertain significance	not provided	2023-11-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000889501	SCV005876342	uncertain significance	not provided	2024-01-26	criteria provided, single submitter	clinical testing	The HSPG2 c.12580G>A; p.Gly4194Arg variant (rs144496753), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 716798). This variant is observed in the general population with an overall allele frequency of 0.03% (72/238098 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.382). Due to limited information, the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences	RCV004735869	SCV005363614	likely benign	HSPG2-related disorder	2024-06-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).