ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)

gnomAD frequency: 0.00001  dbSNP: rs779476529
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804489 SCV000944400 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495093 SCV002786671 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003482313 SCV004229524 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Breakthrough Genomics, Breakthrough Genomics RCV003482313 SCV005194072 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004962819 SCV005552806 uncertain significance Inborn genetic diseases 2024-06-25 criteria provided, single submitter clinical testing The c.2192C>T (p.T731M) alteration is located in exon 10 (coding exon 9) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 2192, causing the threonine (T) at amino acid position 731 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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