ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) (rs10208525)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588916 SCV000603198 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621683 SCV000738312 benign Cardiovascular phenotype 2015-02-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124513 SCV000707427 benign not specified 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000124513 SCV000167946 benign not specified 2012-11-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000401052 SCV000425616 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588916 SCV000696675 benign not provided 2017-03-15 criteria provided, single submitter clinical testing Variant summary: The c.3720T>C (p.Tyr1240=) in COL5A2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect the normal splicing pattern, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.1061 (12774/120436 chrs tested), including numerous homozygous occurrences. This frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.000006). The variant of interest has been cited as Benign by multiple reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
PreventionGenetics RCV000124513 SCV000304003 benign not specified criteria provided, single submitter clinical testing

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