ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)

dbSNP: rs1413266501
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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 RCV001062602 SCV001227415 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2171 of the FBN1 protein (p.Ser2171Phe). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 857010). 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 C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002505634 SCV002815428 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-11-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000128 SCV004843042 uncertain significance Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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