ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1278G>A (p.Pro426=) (rs113245313)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419421 SCV000520894 likely benign not specified 2015-11-19 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 RCV000587473 SCV000695452 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.1278G>A (p.Pro426Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may abrogate the binding sites for splicing enhancers. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 1/121040 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125). In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000549647 SCV000627833 uncertain significance Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-08-07 criteria provided, single submitter clinical testing

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