ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)

gnomAD frequency: 0.00001  dbSNP: rs770569272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316479 SCV001507103 uncertain significance Jeune thoracic dystrophy 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 4306 of the DYNC2H1 protein (p.Gly4306Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs770569272, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of DYNC2H1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 446681). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dan Cohn Lab, University Of California Los Angeles RCV000515978 SCV000612112 uncertain significance Short-rib thoracic dysplasia 6 with or without polydactyly 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515978 SCV001479544 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research

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