Submissions for variant NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)

gnomAD frequency: 0.00008  dbSNP: rs369091875

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001577267	SCV001804618	likely benign	not provided	2019-11-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001577267	SCV002406030	benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Mendelics	RCV002248740	SCV002519083	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001577267	SCV005436006	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	DCHS1: BS2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000504966	SCV000586695	pathogenic	Van Maldergem syndrome 1	2016-03-05	no assertion criteria provided	clinical testing	This variant has been reported in 1000 Genomes and ExAC databases. This variant is predicted to be probably damaging by PolyPhen-2 and damaging by LRT and Mutation Taster.
Reproductive Health Research and Development, BGI Genomics	RCV000504966	SCV001142417	uncertain significance	Van Maldergem syndrome 1	2020-01-06	no assertion criteria provided	curation	NM_003737.2:c.2382G>C in the DCHS1 gene has an allele frequency of 0.008 in South Asian subpopulation in the gnomAD database. It has not been reported previously as a pathogenic variant nor as a benign variant. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: Null.