ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003228487 SCV003924903 pathogenic not provided 2022-11-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Variant in the last nucleotide of the exon in a gene for which loss of function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Substitution of a calcium-binding residue within a calcium-binding EGF-like domain of fibrillin-1, which is an established mechanism of disease for Marfan syndrome (Loeys et al., 2010); This variant is associated with the following publications: (PMID: 19370756, 19293843, 20886638)
Clinical Genetics and Genomics, Karolinska University Hospital RCV004556867 SCV005045623 likely pathogenic Marfan syndrome 2020-06-05 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV003228487 SCV005197884 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing

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