ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) (rs146837092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772487 SCV000905666 likely benign Thoracic aortic aneurysm and aortic dissection 2018-05-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587356 SCV000695372 benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.3537C>A (p.Gly1179Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 21/121254 control chromosomes at a frequency of 0.0001732, which is approximately 139 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.

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