ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)

gnomAD frequency: 0.00002  dbSNP: rs370494288
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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 RCV000757269 SCV000885424 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing The FBN1 c.4488G>A; p.Thr1496Thr variant is not reported in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is reported in the dbSNP variant database (rs370494288) with an allele frequency of 0.0077 percent (1/12987 alleles) in the Exome Variant Server and in the Genome Aggregation Consortium with an allele frequency 0.004696 percent (13/276806 alleles). This is a silent variant, the nucleotide at the position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not change splicing. Considering available information, this variant is classified as likely benign.
Color Diagnostics, LLC DBA Color Health RCV001188500 SCV001355571 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001188500 SCV002041987 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067192 SCV002363045 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117540 SCV003800646 likely benign not specified 2023-01-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999894 SCV004814723 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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