ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)

gnomAD frequency: 0.00004  dbSNP: rs767317022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196494 SCV000250147 uncertain significance not provided 2021-02-12 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 protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Collod-Beroud et al., 2003; Frederic et al., 2009); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213265; Landrum et al., 2016)
CeGaT Center for Human Genetics Tuebingen RCV000196494 SCV001245738 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853141 SCV002156084 likely benign Congenital contractural arachnodactyly 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020357 SCV005018102 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-05 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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