Submissions for variant NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val)

gnomAD frequency: 0.00180  dbSNP: rs150107590

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220215	SCV000270969	benign	not specified	2017-04-13	criteria provided, single submitter	clinical testing	p.Ala15Val in exon 1 of TSPEAR: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (118/30330) of South Asian chr omosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs150107590).
Invitae	RCV000964563	SCV001111783	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000964563	SCV001874529	benign	not provided	2018-06-28	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001731441	SCV001984646	likely benign	Autosomal recessive nonsyndromic hearing loss 98	2020-02-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000964563	SCV004146701	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TSPEAR: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003919877	SCV004728190	likely benign	TSPEAR-related condition	2021-09-27	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).