ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) (rs137853031)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756059 SCV000883772 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing
Dan Cohn Lab,University Of California Los Angeles RCV000516082 SCV000611993 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
Dan Cohn Lab,University Of California Los Angeles RCV000515877 SCV000612017 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
Invitae RCV000515877 SCV000630954 uncertain significance Jeune thoracic dystrophy 2017-06-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2205 of the DYNC2H1 protein (p.Arg2205His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in a fetus affected with autosomal recessive short rib polydactyly syndrome (PMID:19361615). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 6507). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on DYNC2H1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000006880 SCV000027076 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2009-04-01 no assertion criteria provided literature only

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