ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) (rs1801183)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181093 SCV000233369 likely benign not specified 2016-12-06 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.
Ambry Genetics RCV000248053 SCV000317396 likely benign Cardiovascular phenotype 2017-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Invitae RCV000465052 SCV000554721 benign Ehlers-Danlos syndrome, type 4 2018-01-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586968 SCV000695363 likely benign not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.2002C>T (p.Pro668Ser) variant involves the alteration of a conserved nucleotide. 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 54/120672 control chromosomes at a frequency of 0.0004475, which is approximately 358 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586968 SCV000885228 benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Color RCV000777806 SCV000913801 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-19 criteria provided, single submitter clinical testing

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