ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3097A>G (p.Lys1033Glu)

gnomAD frequency: 0.00001  dbSNP: rs773603581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003796120 SCV004580988 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968462 SCV005546248 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.3097A>G (p.K1033E) alteration is located in exon 15 (coding exon 14) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 3097, causing the lysine (K) at amino acid position 1033 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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