ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)

gnomAD frequency: 0.00006  dbSNP: rs367584657
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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 RCV001877983 SCV002155263 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482693 SCV002781111 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004970407 SCV005552786 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.958G>A (p.E320K) alteration is located in exon 7 (coding exon 6) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 958, causing the glutamic acid (E) at amino acid position 320 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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