ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)

gnomAD frequency: 0.00001  dbSNP: rs757216544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806070 SCV000946051 benign Congenital contractural arachnodactyly 2022-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001759542 SCV001985223 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 650840; Landrum et al., 2016)
Ambry Genetics RCV004619421 SCV005113217 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-21 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.

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