ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.114+2T>C

dbSNP: rs116840787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238633 SCV001411457 pathogenic Long QT syndrome 2020-01-30 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing and affects protein function (PMID: 16730439, 21294223). This variant has been observed in the heterozygous and homozygous state in individuals affected with clinical features of caveolinopathies (PMID: 26185955, 16730439). ClinVar contains an entry for this variant (Variation ID: 31740). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the CAV3 gene. It does not directly change the encoded amino acid sequence of the CAV3 protein, but it affects a nucleotide within the consensus splice site of the intron. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496441 SCV002807570 pathogenic Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2021-11-24 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (CAV3) RCV000024426 SCV000045721 not provided not provided 2012-04-15 no assertion provided curation

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