ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) (rs200837433)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196474 SCV000250293 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing The T1416A variant in the FBN2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T1416A variant was observed on 0.27% alleles from individuals of Finnish background in the Exome Aggregation Consortium (ExAC) data set. The T1416A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T1416A as a variant of uncertain significance.
Invitae RCV000465479 SCV000563018 likely benign Congenital contractural arachnodactyly 2020-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617871 SCV000738941 likely benign Cardiovascular phenotype 2019-05-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000465479 SCV001315438 benign Congenital contractural arachnodactyly 2017-09-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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