ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4472-12del

dbSNP: rs758812755
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579546 SCV001474314 likely benign not provided 2024-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001579546 SCV001814263 likely benign not provided 2021-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069531 SCV002367767 benign Congenital contractural arachnodactyly 2024-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994252 SCV004813895 benign not specified 2024-02-05 criteria provided, single submitter clinical testing Variant summary: FBN2 c.4472-12delT alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00039 in 248450 control chromosomes. The observed variant frequency is approximately 300 fold of the estimated maximal expected allele frequency for a pathogenic variant in FBN2 causing Aortopathy phenotype (1.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.4472-12delT in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 994352). Based on the evidence outlined above, the variant was classified as benign.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579546 SCV001807632 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579546 SCV001929046 likely benign not provided no assertion criteria provided clinical testing

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