Submissions for variant NM_002156.5(HSPD1):c.27C>G (p.Arg9=)

gnomAD frequency: 0.00481  dbSNP: rs11551349

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117241	SCV000151414	uncertain significance	not provided	2014-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000195296	SCV000168841	benign	not specified	2014-04-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001081749	SCV000259515	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295232	SCV000425860	benign	Hereditary spastic paraplegia 13	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.
Athena Diagnostics Inc	RCV000195296	SCV001476487	benign	not specified	2020-02-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847689	SCV002104757	benign	Hereditary spastic paraplegia	2021-04-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000117241	SCV002544198	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	HSPD1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003982887	SCV004796182	benign	HSPD1-related condition	2019-05-03	criteria provided, single submitter	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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000195296	SCV001951085	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117241	SCV001973314	likely benign	not provided		no assertion criteria provided	clinical testing