Submissions for variant NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)

gnomAD frequency: 0.00093  dbSNP: rs142920070

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000348431	SCV000345945	uncertain significance	not provided	2016-09-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001505716	SCV001710624	likely benign	Jeune thoracic dystrophy	2025-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000348431	SCV001814916	likely benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519356	SCV003545018	uncertain significance	Inborn genetic diseases	2021-12-07	criteria provided, single submitter	clinical testing	The c.12664A>C (p.I4222L) alteration is located in exon 88 (coding exon 88) of the DYNC2H1 gene. This alteration results from a A to C substitution at nucleotide position 12664, causing the isoleucine (I) at amino acid position 4222 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV003144196	SCV003830800	uncertain significance	Asphyxiating thoracic dystrophy 3	2022-08-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004725149	SCV005336752	likely benign	DYNC2H1-related disorder	2024-03-27	no assertion criteria provided	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).