ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) (rs35852101)

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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 RCV000124500 SCV000603196 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621864 SCV000738327 benign Cardiovascular phenotype 2015-08-07 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
GeneDx RCV000124500 SCV000167933 benign not specified 2012-12-11 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 RCV000372149 SCV000425647 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589740 SCV000696670 benign not provided 2017-03-21 criteria provided, single submitter clinical testing Variant summary: The COL5A2 c.1535T>C (p.Val512Ala) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. The variant does not lie within a known functional domain (InterPro) and 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in the large control database ExAC at a frequency of 0.0182311 (2213/121386 control chromosomes [34 homozygotes]), which is approximately 14585 times the estimated maximal expected allele frequency of a pathogenic COL5A2 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000205712 SCV000262015 benign Ehlers-Danlos syndrome, classic type 2017-07-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124500 SCV000303977 benign not specified criteria provided, single submitter clinical testing

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