ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000586968 SCV000233369 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248053 SCV000317396 likely benign Cardiovascular phenotype 2017-03-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001084087 SCV000554721 benign Ehlers-Danlos syndrome, type 4 2020-06-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 RCV001283048 SCV000885228 benign none provided 2020-04-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000777806 SCV000913801 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-19 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000586968 SCV001799340 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000181093 SCV001807552 benign not specified no assertion criteria provided clinical testing

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