ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)

dbSNP: rs2043845991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344281 SCV001538322 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-03-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with FBN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 361 of the FBN1 protein (p.Asp361Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine.
Color Diagnostics, LLC DBA Color Health RCV003528290 SCV004357480 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-15 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with valine at codon 361 of the FBN1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). 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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