ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn)

dbSNP: rs1556123007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593906 SCV000704545 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332567 SCV001524937 uncertain significance Timothy syndrome 2019-08-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004024757 SCV003540001 uncertain significance Cardiovascular phenotype 2021-09-01 criteria provided, single submitter clinical testing The c.5435G>A (p.S1812N) alteration is located in exon 42 (coding exon 42) of the CACNA1C gene. This alteration results from a G to A substitution at nucleotide position 5435, causing the serine (S) at amino acid position 1812 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000593906 SCV004184207 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1C: PM2

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