ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.248-4A>G

dbSNP: rs1597631751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398876 SCV001600658 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427346 SCV002740433 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-01-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004003301 SCV004843775 uncertain significance Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the -4 position of intron 3 of the FBN1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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