Submissions for variant NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)

gnomAD frequency: 0.00069  dbSNP: rs191381310

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000278291	SCV000332147	uncertain significance	not provided	2015-06-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000332147	SCV000366647	uncertain significance	Jeune thoracic dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389075	SCV000366648	uncertain significance	Asphyxiating thoracic dystrophy 3	2018-01-12	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.
Invitae	RCV000332147	SCV000630946	likely benign	Jeune thoracic dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000278291	SCV002008460	uncertain significance	not provided	2021-10-22	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000389075	SCV004562109	uncertain significance	Asphyxiating thoracic dystrophy 3	2023-09-18	criteria provided, single submitter	clinical testing	The DYNC2H1 c.3170G>A; p.Arg1057His variant (rs191381310), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 281379). This variant is found in the general population with an overall allele frequency of 0.05% (99/189,496 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.126). Due to limited information, the clinical significance of this variant is uncertain at this time.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000278291	SCV001797646	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000278291	SCV001968152	uncertain significance	not provided		no assertion criteria provided	clinical testing