ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=)

gnomAD frequency: 0.00188  dbSNP: rs369838929
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595291 SCV000707526 likely benign not specified 2017-04-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756055 SCV000883767 likely benign not provided 2018-01-02 criteria provided, single submitter clinical testing The c.10335A>G; p.Glu3445Glu variant (rs369838929), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.6% (identified on 99 out of 17,402 chromosomes). The c.10335A>G variant 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 (Alamut v.2.10.0). Based on the available information, the c.10335A>G variant is likely to be benign.
Invitae RCV001079191 SCV001001832 benign Jeune thoracic dystrophy 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000756055 SCV001764396 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing

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