ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5105A>G (p.Asp1702Gly)

dbSNP: rs1294870005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244271 SCV002512696 uncertain significance Acromicric dysplasia; Geleophysic dysplasia 2 2021-09-25 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate
All of Us Research Program, National Institutes of Health RCV004804410 SCV005424763 uncertain significance Marfan syndrome 2024-03-05 criteria provided, single submitter clinical testing
GeneDx RCV004820238 SCV005441355 uncertain significance not provided 2024-06-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Does not affect a cysteine or calcium-binding residue within an EGF-like domain or a TGF-binding protein domain of the FBN1 gene; cysteine substitutions in the EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (PMID: 12938084); This variant is associated with the following publications: (PMID: 12938084)

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