ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.259C>T (p.Pro87Ser) (rs370113959)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547258 SCV000634001 uncertain significance Early infantile epileptic encephalopathy 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 87 of the HCN1 protein (p.Pro87Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs370113959, ExAC 0.06%). This variant has not been reported in the literature in individuals with HCN1-related disease. ClinVar contains an entry for this variant (Variation ID: 461373). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV000719270 SCV000850136 likely benign History of neurodevelopmental disorder 2016-12-13 criteria provided, single submitter clinical testing Insufficient evidence

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