Submissions for variant NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)

gnomAD frequency: 0.00064  dbSNP: rs189967386

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000302523	SCV000340749	uncertain significance	not provided	2018-01-18	criteria provided, single submitter	clinical testing
Invitae	RCV000302523	SCV001115487	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000302523	SCV001795482	likely benign	not provided	2022-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519279	SCV003716419	uncertain significance	Inborn genetic diseases	2022-01-31	criteria provided, single submitter	clinical testing	The c.2740T>C (p.Y914H) alteration is located in exon 15 (coding exon 15) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 2740, causing the tyrosine (Y) at amino acid position 914 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003949887	SCV004772720	likely benign	ADGRV1-related condition	2022-05-20	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).