Submissions for variant NM_144991.3(TSPEAR):c.702C>T (p.Asn234=)

gnomAD frequency: 0.00468  dbSNP: rs117791519

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214464	SCV000269934	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Asn234Asn in exon 5 of TSPEAR: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.6% (51/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs117791519).
GeneDx	RCV000886149	SCV000722482	benign	not provided	2018-08-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886149	SCV001029637	benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000886149	SCV001371410	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	TSPEAR: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000886149	SCV005207533	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003929882	SCV004745765	benign	TSPEAR-related disorder	2020-03-09	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).