ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile)

gnomAD frequency: 0.00008  dbSNP: rs369630836
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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 RCV001046181 SCV001210072 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031425 SCV004914977 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.718G>A (p.V240I) alteration is located in exon 6 (coding exon 5) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 718, causing the valine (V) at amino acid position 240 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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