ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) (rs143290224)

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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 RCV000415093 SCV000328782 uncertain significance Slowed nerve conduction velocity, autosomal dominant 2016-01-18 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in ARHGEF10 (NM_014629.2, c.1456dup and c.2063G>A in trans) and ECEL1 (NM_004826.2, c.1470G>A) in this individual reported to have features of delayed motor milestones, dysmorphic features, joint contracture at elbow, knee and small joints and camptodactyly. So far, only one missense variant has been reported in a 4-generation family with slowed motor and sensory nerve-conduction velocities (PMID:14508709).

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