ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10043-7T>A

gnomAD frequency: 0.00022  dbSNP: rs376067770
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378511 SCV000366797 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286468 SCV000366798 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 RCV000378511 SCV000755499 likely benign Jeune thoracic dystrophy 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731907 SCV000859775 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000286468 SCV001471712 uncertain significance Asphyxiating thoracic dystrophy 3 2019-10-07 criteria provided, single submitter clinical testing The DYNC2H1 c.10064-7T>A variant (rs376067770), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 302086). This variant is found in the non-Finnish European population with an allele frequency of 0.050% (63/125898 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, without functional studies the effect on splicing is unknown. Due to limited information, the clinical significance of the c.10064-7T>A variant is uncertain at this time.
GeneDx RCV000731907 SCV001772746 likely benign not provided 2019-08-27 criteria provided, single submitter clinical testing

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