ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.50-3C>T

gnomAD frequency: 0.00003  dbSNP: rs780161540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175641 SCV000227167 uncertain significance not provided 2014-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001050617 SCV001214735 uncertain significance Long QT syndrome 2024-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CACNA1C gene. It does not directly change the encoded amino acid sequence of the CACNA1C protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 195098). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000175641 SCV001939439 likely benign not provided 2020-02-12 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252018 SCV002523235 uncertain significance See cases 2019-09-11 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Ambry Genetics RCV003165365 SCV003866160 uncertain significance Cardiovascular phenotype 2023-03-08 criteria provided, single submitter clinical testing The c.50-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 2 in the CACNA1C gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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