ClinVar Miner

Submissions for variant NM_024529.4(CDC73):c.-4dup (rs545666726)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000265031 SCV000339712 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401688 SCV000352113 uncertain significance Hyperparathyroidism 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306228 SCV000352114 uncertain significance Isolated Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365849 SCV000352115 uncertain significance Parathyroid carcinoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000265031 SCV000564831 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000587300 SCV000699511 benign not provided 2016-04-28 criteria provided, single submitter clinical testing Variant summary: c.-4dupG is located in the 5UTR region. Mutation taster predicts deleterious outcome. 4/5 in silico tools in Alamut predict no significant change on splicing pattern, however, these predictions should be taken with caution as Alamut tools are not meant to analyze UTR regions. The variant is present in the control population dataset of ExAC at frequency of 0.94%, predominantly in individuals of European descent (1.2%), including several homozygous occurrences. The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.0004%, suggesting that it is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals but cited as "Benign" by a clinical laboratory. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
Invitae RCV000365849 SCV001001025 benign Parathyroid carcinoma 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023396 SCV001185265 benign Hereditary cancer-predisposing syndrome 2018-09-21 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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