ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) (rs1485709375)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695103 SCV000823583 uncertain significance Early infantile epileptic encephalopathy 2019-11-15 criteria provided, single submitter clinical testing This variant, c.192_206dup, results in the insertion of 5 amino acid(s) to the HCN1 protein (p.Gly70_Gly74dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 573431). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000719394 SCV000850261 likely benign History of neurodevelopmental disorder 2016-10-06 criteria provided, single submitter clinical testing Other strong data supporting benign classification

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