ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.647T>G (p.Val216Gly)

dbSNP: rs879255696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414881 SCV000328770 likely pathogenic Developmental and epileptic encephalopathy, 13 2014-10-03 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in SCN8A (NM_014191.3, c.647T>G) and MAN2B1 (NM_000528.3, c.2782G>C and c.1383C>G in trans) in one individual with reported features that include delayed motor milestones, delayed speech, intellectual disability, hypotonia, seizure disorder (refractory epilepsy), abnormal movements (dyskinesia), minor dysmorphic features (flat nasal bridge, prominent eyes, full lips), microcephaly, dysphagia, and cortical visual impairment.

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