ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) (rs747348765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000515915 SCV000611914 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
GeneDx RCV000521573 SCV000617826 likely pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The A2304T variant has been published in association with Jeune asphyxiating thoracic dystrophy (JATD) (Schmidts et al., 2013). The A2304T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). A2304T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754936 SCV000788361 uncertain significance Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research

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