ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)

gnomAD frequency: 0.00004  dbSNP: rs888075207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579305 SCV000680595 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FBN2 gene. The c.6153 C>T variant results in asynonymous change of the residue S2051 in the FBN2 gene. This variant has not been published as pathogenic orbeen reported as benign to our knowledge. However, c.6153 C>T (S2051S) has been identified in one otherindividual referred for Marfan/TAAD genetic testing at GeneDx. The c.6153 C>T (S2051S) variant was observed in atotal of 4/277,112 (0.001%) alleles from individuals of varying ethnic backgrounds in large population cohorts (Lek etal., 2016). Although this substitution occurs at a nucleotide position that is not conserved, where thymine (T) is thewild-type nucleotide in multiple species, in silico splicing algorithms predict this variant may create a cryptic splicedonor site upstream of the natural splice donor site, leading to abnormal splicing in the FBN2 gene. However, in theabsence of functional mRNA studies, the physiological consequence of this variant on splicing cannot be preciselydetermined.
Labcorp Genetics (formerly Invitae), Labcorp RCV001069444 SCV001234608 benign Congenital contractural arachnodactyly 2023-12-20 criteria provided, single submitter clinical testing

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