ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) (rs771487311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408623 SCV000484421 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 a leucine to a proline at amino acid position 3448, NP_001073932.1(DYNC2H1): p.Leu3448). The leucine at this position is highly conserved and is located in the ATP-binding dynein motor region D5.Grantham assessment is likely deleterious due to conservation and amino acid properties. 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 teh DYNC2H1 gene was present in trans.
Dan Cohn Lab,University Of California Los Angeles RCV000516064 SCV000611910 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research
Dan Cohn Lab,University Of California Los Angeles RCV000515886 SCV000611928 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
Dan Cohn Lab,University Of California Los Angeles RCV000515875 SCV000611991 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research

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