ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)

gnomAD frequency: 0.00001  dbSNP: rs765867245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048634 SCV002307015 benign Congenital contractural arachnodactyly 2022-11-17 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002048634 SCV002768893 uncertain significance Congenital contractural arachnodactyly 2020-10-19 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS – 3C. Following criteria are met: 0102 - Loss of function is a mechanism of disease in this gene and is associated with congenital contractural arachnodactyly (MIM#121050). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from asparagine to serine. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v2) <0.001 for a dominant condition (7 heterozygotes, 0 homozygotes). (SP) 0504 - Same amino acid change has been observed in placental mammals. (SB) 0600 - Variant is located in the annotated calcium binding EGF-like 46 domain (PDB). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Revvity Omics, Revvity RCV003146488 SCV003834030 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941250 SCV004764708 uncertain significance FBN2-related disorder 2023-10-20 no assertion criteria provided clinical testing The FBN2 c.7985A>G variant is predicted to result in the amino acid substitution p.Asn2662Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-127599324-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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