ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) (rs535608443)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170817 SCV000223372 uncertain significance not provided 2013-02-18 criteria provided, single submitter clinical testing p.Asn33Ser (AAT>AGT): c.98 A>G in exon 2 of the CACNA1C gene (NM_000719.6). The Asn33Ser variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Asn33Ser results in a conservative amino acid substitution of one neutral, polar amino acid for another at a position that is not conserved across species. Consequently, in silico analysis predicts Asn33Ser is benign to the protein structure/function. However, one nearby mutation (Asn39Val) has been reported in association with Brugada syndrome (Antzeltevich C et al., 2007). In addition, the Asn33Ser variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Asn33Ser is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).
Fulgent Genetics,Fulgent Genetics RCV000765083 SCV000896288 uncertain significance Timothy syndrome; Brugada syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000170817 SCV001148517 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing

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