ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)

gnomAD frequency: 0.00008  dbSNP: rs199678757
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711507 SCV000250105 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17345643, 16835936, 18767143)
Illumina Laboratory Services, Illumina RCV000298589 SCV000452607 likely benign Congenital contractural arachnodactyly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000298589 SCV001733282 benign Congenital contractural arachnodactyly 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453718 SCV002613230 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002503763 SCV002806015 likely benign Congenital contractural arachnodactyly; Macular degeneration, early-onset 2021-10-07 criteria provided, single submitter clinical testing

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