ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) (rs60734921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711068 SCV000329188 uncertain significance not provided 2015-04-06 criteria provided, single submitter clinical testing The P618L variant in the CACNA1H gene has been reported previously in association with familial cases of epilepsy; however, this variant did not segregate with the disease in all families reported (Heron et al., 2004; Heron et al., 2007). The P618L variant was not observed with any significant frequency in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P618L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Functional characterization of P618L indicates that this variant results in accelerated channel activation as well as channel inactivation, thereby allowing for greater channel availability of P618L compared to wild type (Khosravani et al., 2005). We interpret P618L as a variant of unknown significance.
Invitae RCV000711068 SCV000632092 likely benign not provided 2019-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711068 SCV000841395 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
OMIM RCV000002824 SCV000022982 risk factor Epilepsy, idiopathic generalized 6 2005-05-01 no assertion criteria provided literature only

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