ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.164+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224677 SCV003919954 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 2022-12-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature or in disease-specific databases, and is not present in gnomAD. This variant occurs in the splice region, and computational prediction tools suggest this variant may impact splicing by weaking the canonical splice donor site. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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