ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro)

dbSNP: rs1555071484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851416 SCV002301525 likely pathogenic Jeune thoracic dystrophy 2021-09-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 446587). This variant has been observed in individual(s) with clinical features of short-rib thoracic dysplasia with or without polydactyly (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 2910 of the DYNC2H1 protein (p.Leu2910Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Dan Cohn Lab, University Of California Los Angeles RCV001291172 SCV000611981 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291172 SCV001479571 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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