ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12924G>C (p.Ter4308Tyr)

gnomAD frequency: 0.00001  dbSNP: rs199566086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922532 SCV002175229 uncertain significance Jeune thoracic dystrophy 2022-08-23 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the DYNC2H1 mRNA. It is expected to extend the length of the DYNC2H1 protein by 29 additional amino acid residues. This variant is present in population databases (rs199566086, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398293). 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.

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