ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.10_17del (p.Glu4fs)

dbSNP: rs778914298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381159 SCV000345588 pathogenic not provided 2016-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000465696 SCV000549199 pathogenic Long QT syndrome 2023-06-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 290919). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. This variant is present in population databases (rs778914298, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Glu4Hisfs*17) in the CAV3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAV3 are known to be pathogenic (PMID: 18487559).
AiLife Diagnostics, AiLife Diagnostics RCV000381159 SCV002501162 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing
Mendelics RCV002248512 SCV002518643 pathogenic Elevated circulating creatine kinase concentration 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436126 SCV002752216 uncertain significance Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing The c.10_17delGAAGAGCA variant, located in coding exon 1 of the CAV3 gene, results from a deletion of 8 nucleotides at nucleotide positions 10 to 17, causing a translational frameshift with a predicted alternate stop codon (p.E4Hfs*17). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Although truncating variants have been implicated in autosomal recessive caveolinopathy, loss of function has not been established as a mechanism of disease for autosomal dominant caveolinopathy (Müller JS et al. Neuromuscul Disord, 2006 Jul;16:432-6; Ueyama H et al. Neuromuscul Disord, 2007 Jul;17:558-61; Traverso M et al. J Neurol Neurosurg Psychiatry, 2008 Jun;79:735-7). Based on the supporting evidence, this variant is expected to be pathogenic for autosomal recessive caveolinopathy when present along with a second pathogenic variant on the other allele; however, the clinical significance of this variant in the heterozygous state is unclear.

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