ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)

gnomAD frequency: 0.00001  dbSNP: rs1481524583
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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 RCV001877813 SCV002141122 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552139 SCV003725658 uncertain significance Inborn genetic diseases 2022-09-30 criteria provided, single submitter clinical testing The c.1607C>T (p.P536L) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 1607, causing the proline (P) at amino acid position 536 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003395252 SCV004133630 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing

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