Submissions for variant NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)

gnomAD frequency: 0.00034  dbSNP: rs201194631

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205052	SCV000261007	likely benign	Jeune thoracic dystrophy	2024-12-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356294	SCV000366659	uncertain significance	Short rib-polydactyly syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094012	SCV000366660	uncertain significance	Asphyxiating thoracic dystrophy 3	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV001572773	SCV002051590	uncertain significance	not provided	2021-02-17	criteria provided, single submitter	clinical testing	PM2
Fulgent Genetics, Fulgent Genetics	RCV001094012	SCV002797529	uncertain significance	Asphyxiating thoracic dystrophy 3	2021-07-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517378	SCV003717199	uncertain significance	Inborn genetic diseases	2024-06-18	criteria provided, single submitter	clinical testing	The c.3665G>A (p.G1222E) alteration is located in exon 25 (coding exon 25) of the DYNC2H1 gene. This alteration results from a G to A substitution at nucleotide position 3665, causing the glycine (G) at amino acid position 1222 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572773	SCV001797656	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572773	SCV001971806	uncertain significance	not provided		no assertion criteria provided	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816356	SCV005070370	uncertain significance	Retinal dystrophy	2023-01-01	no assertion criteria provided	clinical testing