ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.454del (p.Ter152LysextTer?)

dbSNP: rs1575478107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991750 SCV001143449 uncertain significance not provided 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001066014 SCV001231007 uncertain significance Long QT syndrome 2019-02-14 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CAV3-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.454del, disrupts the translational stop signal of CAV3 and is expected to extend the length of the protein by 100 additional amino acid residues.
GeneDx RCV000991750 SCV003842464 uncertain significance not provided 2022-09-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Normal stop codon changed to a Lysine codon, leading to the addition of 100 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge

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