ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) (rs730880056)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588534 SCV000697545 uncertain significance not provided 2016-03-07 criteria provided, single submitter clinical testing Variant summary: CACNA1C c.2579G>C affects a conserved nucleotide, resulting in amino acid change from Arg to Pro. 3/4 in-silico tools predict this variant to be damaging (SNPs&GO not captured due to low reliability index). Another variant at this codon c.2579G>A (p.Arg860Gln) is classified as likely pathogenic in ClinVar and has been reported in the literature. However, the variant of interest has not been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Additionally, this variant was not found in 116972 control chromosomes. One clinical lab via ClinVar classified this variant as VUS, without evidence to independently evaluate. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678964 SCV000805180 likely pathogenic Timothy syndrome 2018-05-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157123 SCV000206846 uncertain significance Long QT syndrome 2014-08-04 no assertion criteria provided clinical testing

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