ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter)

dbSNP: rs904072058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572332 SCV001796954 pathogenic not provided 2020-08-27 criteria provided, single submitter clinical testing Nonsense 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 in large population cohorts (Lek et al., 2016); Observed in hemizygous state in two brothers with severe epileptic encephalopathy with continuous spike-waves in sleep (ECSWS), developmental delay and ADHD; in heterozygous state in a sister with childhood epilepsy with centrotemporal spikes, mild developmental delay and learning difficulties; and in heterozygous state in the mother with febrile seizures (Damiano et al., 2017); This variant is associated with the following publications: (PMID: 31414730, 32245427, 28098945)
OMIM RCV000516164 SCV000612155 pathogenic Intellectual disability, X-linked, syndromic, Houge type 2021-08-19 no assertion criteria provided literature only

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