ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)

gnomAD frequency: 0.00009  dbSNP: rs750277154
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711121 SCV000841449 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796351 SCV000935861 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269149 SCV001448413 uncertain significance not specified 2020-11-04 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.6023G>T (p.Ser2008Ile) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9.5e-05 in 147894 control chromosomes (gnomAD). To our knowledge, no occurrence of c.6023G>T in individuals affected with CACNA1H-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both of them classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV004965712 SCV005552794 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.6023G>T (p.S2008I) alteration is located in exon 34 (coding exon 33) of the CACNA1H gene. This alteration results from a G to T substitution at nucleotide position 6023, causing the serine (S) at amino acid position 2008 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.