ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)

gnomAD frequency: 0.00001  dbSNP: rs886038781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244987 SCV000317673 uncertain significance Cardiovascular phenotype 2014-11-21 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Fulgent Genetics, Fulgent Genetics RCV002500941 SCV002788835 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 2021-10-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999004 SCV004834936 uncertain significance Marfan syndrome 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 1336 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 been identified in 2/282658 chromosomes 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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