ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val)

gnomAD frequency: 0.00005  dbSNP: rs755028000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245532 SCV000320438 uncertain significance Cardiovascular phenotype 2021-02-23 criteria provided, single submitter clinical testing The p.A36V variant (also known as c.107C>T), located in coding exon 2 of the CACNA1C gene, results from a C to T substitution at nucleotide position 107. The alanine at codon 36 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001063656 SCV001228513 benign Long QT syndrome 2023-11-05 criteria provided, single submitter clinical testing
GeneDx RCV002461052 SCV002757270 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing Identified as de novo in one individual with schizophrenia in a large scale whole exome sequencing study (Wang et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35220405)

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