ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)

gnomAD frequency: 0.00001  dbSNP: rs199476325
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research, Children's National Medical Center RCV000234023 SCV000265784 likely pathogenic Rippling muscle disease 2 2015-12-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000560643 SCV000627768 uncertain significance Long QT syndrome 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 34 of the CAV3 protein (p.Glu34Lys). This variant is present in population databases (rs199476325, gnomAD 0.005%). This missense change has been observed in individuals with limb-girdle muscular dystrophy (LGMD) (PMID: 17897828, 27854218). This variant is also known as p.Glu33Lys. ClinVar contains an entry for this variant (Variation ID: 31730). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770194 SCV000901622 uncertain significance Cardiomyopathy 2017-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018672 SCV004919835 uncertain significance Cardiovascular phenotype 2020-03-27 criteria provided, single submitter clinical testing The c.100G>A (p.E34K) alteration is located in exon 1 (coding exon 1) of the CAV3 gene. This alteration results from a G to A substitution at nucleotide position 100, causing the glutamic acid (E) at amino acid position 34 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Leiden Muscular Dystrophy (CAV3) RCV000024415 SCV000045710 not provided not provided 2012-04-15 no assertion provided curation

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