ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2144A>G (p.Asn715Ser)

dbSNP: rs1555757432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774170 SCV001994694 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing Reported, as N715S due to the use of alternative nomenclature, as apparently de novo in a patient with congenital heart disease and conotruncal defect in the published literature; however, additional clinical information was not provided and it is unknown if the patient had a neurodevelopmental phenotype (Jin et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28991257, 32368696)

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