ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) (rs141091206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772005 SCV000904961 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000434363 SCV000528896 likely benign not specified 2017-11-16 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 RCV000588294 SCV000695355 benign not provided 2016-04-04 criteria provided, single submitter clinical testing Variant Summary: The c.1617C>T variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with, an allele frequency of 0.007%. This frequency exceeds the maximum expected allele frequency for a pathogenic COL3A1 variant (0.0001%), suggesting this is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant has been classified as Benign.
Invitae RCV000460934 SCV000554720 likely benign Ehlers-Danlos syndrome, type 4 2018-01-24 criteria provided, single submitter clinical testing

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