ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)

gnomAD frequency: 0.00001  dbSNP: rs997846742
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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 RCV002008206 SCV002274046 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003348717 SCV004075555 uncertain significance Inborn genetic diseases 2023-08-10 criteria provided, single submitter clinical testing The c.947C>T (p.T316I) alteration is located in exon 7 (coding exon 6) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 947, causing the threonine (T) at amino acid position 316 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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