ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003587096 SCV004277827 pathogenic Jeune thoracic dystrophy 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg998*) in the DYNC2H1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYNC2H1 are known to be pathogenic (PMID: 23339108, 32753734, 33755199). This variant is present in population databases (rs756008276, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with clinical features of short rib polydactyly (SRP) type III syndrome (PMID: 29359448). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005051329 SCV005678284 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-04-25 criteria provided, single submitter clinical testing

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