ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) (rs376194507)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196979 SCV000250176 uncertain significance not specified 2017-10-30 criteria provided, single submitter clinical testing The R934Q variant has not been published as a mutation or as a benign polymorphism to our knowledge. The R934Q variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R934Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved in mammals. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with congenital contractural arachnodactyly. Therefore, based on the currently available molecular information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659608 SCV000781447 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000705520 SCV000834520 likely benign Congenital contractural arachnodactyly 2020-06-27 criteria provided, single submitter clinical testing

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