ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) (rs759549373)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408613 SCV000484420 likely pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2014-07-11 criteria provided, single submitter clinical testing This substitution is predicted to create a change of an arginine to a histidine at amino acid position 3374, NP_001073932.1(DYNC2H1): p.Arg3374His). The arginine at this position is highly conserved and is located in the ATP-binding dynein motor region D5. In-silico software predicts this variant to be disease-causing. this is a novel variant not present in disease or population databases. It was identified in a patient with clinical and radiographic features of JATD, and a second novel missense variant in the DYNC2H1 gene was present in trans.

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