ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002590417 SCV002954247 pathogenic Jeune thoracic dystrophy 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met3607Valfs*5) 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 not present in population databases (gnomAD no frequency). 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: 1916428). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003886582 SCV004703546 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing DYNC2H1: PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV005042902 SCV005680478 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-03-11 criteria provided, single submitter clinical testing

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