ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) (rs28763954)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180226 SCV000168472 benign not specified 2014-04-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180226 SCV000232623 benign not specified 2015-04-02 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000180226 SCV000257911 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Invitae RCV000232972 SCV000287290 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180226 SCV000308664 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254151 SCV000317354 benign Cardiovascular phenotype 2014-11-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Illumina Clinical Services Laboratory,Illumina RCV000232972 SCV000452644 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282661 SCV000603686 benign none provided 2020-06-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587728 SCV000697908 benign not provided 2017-03-29 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.976C>T (p.Pro326Ser) variant causes a missense change involving the alteration of a conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. The variant of interest has been found in a large, broad control population, ExAC, in 796/121328 control chromosomes (6 homozygotes) at a frequency of 0.0065607, which is approximately 140 times the estimated maximal expected allele frequency of a pathogenic FBN2 variant (0.0000469), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000232972 SCV000743984 benign Congenital contractural arachnodactyly 2016-07-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000232972 SCV000745434 likely benign Congenital contractural arachnodactyly 2017-09-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659596 SCV000781435 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000232972 SCV001136968 benign Congenital contractural arachnodactyly 2019-05-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000232972 SCV000745938 benign Congenital contractural arachnodactyly 2014-11-25 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000587728 SCV001799528 likely benign not provided no assertion criteria provided clinical testing

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