ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)

gnomAD frequency: 0.00001  dbSNP: rs773528195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171204 SCV000221401 likely pathogenic not provided criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001320102 SCV001510875 likely benign Long QT syndrome 2024-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165352 SCV003896211 uncertain significance Cardiovascular phenotype 2022-11-03 criteria provided, single submitter clinical testing The p.D57N variant (also known as c.169G>A), located in coding exon 2 of the CACNA1C gene, results from a G to A substitution at nucleotide position 169. The aspartic acid at codon 57 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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 alteration remains unclear.

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