ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)

gnomAD frequency: 0.00007  dbSNP: rs539324457
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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 RCV000635039 SCV000756417 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764010 SCV000894962 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162835 SCV003877890 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.171G>T (p.E57D) alteration is located in exon 2 (coding exon 1) of the CACNA1H gene. This alteration results from a G to T substitution at nucleotide position 171, causing the glutamic acid (E) at amino acid position 57 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691977 SCV005194068 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV004691977 SCV005628476 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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