ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr)

gnomAD frequency: 0.00001  dbSNP: rs776165690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245347 SCV001418630 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1617 of the CACNA1H protein (p.His1617Tyr). This variant is present in population databases (rs776165690, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 969896). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1H protein function. 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.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003387982 SCV004099349 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2023-10-30 no assertion criteria provided clinical testing

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