Submissions for variant NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)

gnomAD frequency: 0.00102  dbSNP: rs368824340

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000373034	SCV000332747	likely benign	not specified	2015-07-28	criteria provided, single submitter	clinical testing
Invitae	RCV001088554	SCV000755495	benign	Jeune thoracic dystrophy	2024-01-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757200	SCV000885341	likely benign	not provided	2018-03-25	criteria provided, single submitter	clinical testing	The c.6918A>G; p.Ser2306Ser variant (rs368824340, ClinVar variant ID 281774) does not alter the amino acid sequence of the DYNC2H1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with skeletal dysplasia in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.3% (identified on 75 out of 23,996 chromosomes). Based on the available information, the c.6918A>G variant is likely to be benign.
GeneDx	RCV000757200	SCV001820850	likely benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000373034	SCV002070179	likely benign	not specified	2020-03-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939951	SCV004759273	likely benign	DYNC2H1-related condition	2020-10-12	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).