ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)

gnomAD frequency: 0.00002  dbSNP: rs372848579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000327809 SCV000329187 uncertain significance not provided 2016-02-26 criteria provided, single submitter clinical testing The P277L variant in the CACNA1H gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P277L variant was not observed at any significant frequency in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P277L 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 in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P277L as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000764011 SCV000894963 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765577 SCV004568900 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-09 criteria provided, single submitter clinical testing

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