Submissions for variant NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)

gnomAD frequency: 0.00046  dbSNP: rs139838884

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000296341	SCV000337637	uncertain significance	not provided	2016-06-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000352198	SCV000354731	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000401011	SCV000354732	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000296341	SCV001041855	likely benign	not provided	2023-12-02	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000296341	SCV001475891	likely benign	not provided	2020-03-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000296341	SCV001768593	likely benign	not provided	2020-07-30	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000296341	SCV003811917	uncertain significance	not provided	2021-09-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930103	SCV004738540	likely benign	HSPG2-related condition	2022-12-28	criteria provided, single submitter	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).