ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1653C>T (p.Gly551=)

gnomAD frequency: 0.00001  dbSNP: rs766565738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811748 SCV002050020 likely benign not provided 2021-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542336 SCV003517434 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040889 SCV003742089 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-25 criteria provided, single submitter clinical testing The c.1653C>T (p.G551G) alteration is located in exon 14 (coding exon 13) of the FBN1 gene. This alteration consists of a C to T substitution at nucleotide position 1653. This nucleotide substitution does not change the amino acid at codon 551. However, this change occurs in the last nucleotide of Exon 14 (c.1589_1714) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009070 SCV004817193 likely benign Marfan syndrome 2023-02-24 criteria provided, single submitter clinical testing

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