ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs)

dbSNP: rs431905500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000006887 SCV001985043 pathogenic Asphyxiating thoracic dystrophy 3 2021-09-02 criteria provided, single submitter clinical testing This variant was observed in compound heterozygosity with variant c.9044A>G
Invitae RCV001851710 SCV002236676 pathogenic Jeune thoracic dystrophy 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu3377Cysfs*35) 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 (rs574497162, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with short rib-polydactyly syndrome type III (PMID: 19442771). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6514). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003229800 SCV003927696 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19442771)
OMIM RCV000006887 SCV000027083 pathogenic Asphyxiating thoracic dystrophy 3 2009-05-01 no assertion criteria provided literature only

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