ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4213del (p.Ala1405fs)

dbSNP: rs2095348902
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049140 SCV001213174 uncertain significance Long QT syndrome 2022-11-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1405Profs*62) in the CACNA1C gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA1C cause disease. This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 845960).

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