ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) (rs371715068)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200478 SCV000250255 uncertain significance not specified 2012-10-30 criteria provided, single submitter clinical testing p.Lys2778Gln (AAG>CAG): c.8332 A>C in exon 64 of the FBN2 gene (NM_001999.3) The Lys2778Gln variant in the FBN2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Lys2778Gln results in a semi-conservative amino acid substitution of a positively charged Lysine with a neutral, polar Glutamine at a position that is conserved across species. However, in silico analysis predicts Lys2778Gln is benign to the protein structure/function. Additionally, no mutations in nearby codons have been reported in association with congenital contractural arachnodactyly, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Lys2778Gln is a disease-causing mutation or a rare benign variant. This variant was found in TAAD
Ambry Genetics RCV000250023 SCV000318733 benign Cardiovascular phenotype 2016-02-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000382426 SCV000452537 benign Congenital contractural arachnodactyly 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000382426 SCV000563023 benign Congenital contractural arachnodactyly 2020-07-08 criteria provided, single submitter clinical testing

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