ClinVar Miner

Submissions for variant NM_005215.4(DCC):c.1140+1G>A

dbSNP: rs797044553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441766 SCV004169924 pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing Reported to segregate in a French Canadian family with isolated congenital mirror movements (Srour et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Published functional studies demonstrate a damaging effect as this variant results in exon skipping (Srour et al., 2010); This variant is associated with the following publications: (PMID: 25525159, 20431009)
OMIM RCV000192080 SCV000038888 pathogenic Mirror movements 1 2010-04-30 no assertion criteria provided literature only
GeneReviews RCV000192080 SCV000218412 not provided Mirror movements 1 no assertion provided literature only

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