ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)

gnomAD frequency: 0.00007  dbSNP: rs201577113
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245306 SCV001418584 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001548338 SCV001768232 uncertain significance not provided 2021-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002491825 SCV002776672 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365287 SCV004064919 uncertain significance Inborn genetic diseases 2023-07-17 criteria provided, single submitter clinical testing The c.6817C>T (p.L2273F) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 6817, causing the leucine (L) at amino acid position 2273 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001548338 SCV005194087 uncertain significance not provided criteria provided, single submitter not provided

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