ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5917+9T>G (rs371439173)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205963 SCV000261433 likely benign Congenital contractural arachnodactyly 2020-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205963 SCV000452574 likely benign Congenital contractural arachnodactyly 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000612271 SCV000729240 benign not specified 2017-09-20 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285118 SCV001471482 uncertain significance none provided 2020-02-23 criteria provided, single submitter clinical testing The FBN2 c.5917+9T>G variant (rs371439173), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database (Variation ID: 220686). This variant is found in the general population with an allele frequency in East Asian populations of 0.06% (12/19952 alleles) in the Genome Aggregation Database. While this variant does not alter splicing at the nearby canonical splice donor site, it is predicted to create a new cryptic donor site five bases upstream, although RNA studies would be required to confirm an effect on splicing. Due to limited information, the clinical significance of the c.5917+9T>G variant is uncertain at this time.

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