ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr)

gnomAD frequency: 0.00030  dbSNP: rs149054177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200814 SCV000250106 likely benign not specified 2014-05-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000693997 SCV000822421 likely benign Congenital contractural arachnodactyly 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345459 SCV002622658 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
OMIM RCV000148949 SCV000195869 pathogenic Macular degeneration, early-onset 2014-11-01 no assertion criteria provided literature only

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