ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)

gnomAD frequency: 0.00007  dbSNP: rs763675499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055401 SCV001219789 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481999 SCV002786516 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553794 SCV003722483 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.6611C>T (p.A2204V) 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 6611, causing the alanine (A) at amino acid position 2204 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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