ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1378dup (p.Gln460fs) (rs606231133)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810664 SCV000950890 likely pathogenic Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 2018-10-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DOK7 gene (p.Gln460Profs*59). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acids of the DOK7 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in combination with another DOK7 variant in individuals affected with congenital myasthenic syndrome (PMID: 16917026, 18626973). This variant is also known as c,1378insC in the literature. ClinVar contains an entry for this variant (Variation ID: 1282). Experimental studies have shown that this variant affected AChR clustering in transfected myoblasts (PMID: 18626973). 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.
OMIM RCV000001345 SCV000021495 pathogenic Myasthenia, limb-girdle, familial 2008-07-01 no assertion criteria provided literature only

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