ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)

gnomAD frequency: 0.00001  dbSNP: rs1060502317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465194 SCV000549193 uncertain significance Long QT syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 48 of the CAV3 protein (p.Pro48Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. ClinVar contains an entry for this variant (Variation ID: 409259). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002393131 SCV002702888 uncertain significance Cardiovascular phenotype 2022-07-08 criteria provided, single submitter clinical testing The p.P48R variant (also known as c.143C>G), located in coding exon 2 of the CAV3 gene, results from a C to G substitution at nucleotide position 143. The proline at codon 48 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481436 SCV002775267 uncertain significance Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2022-01-10 criteria provided, single submitter clinical testing

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