ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)

gnomAD frequency: 0.00034  dbSNP: rs139846706
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756188 SCV000883917 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing The FLNB c.6515G>A; p.Arg2172His variant (rs139846706), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 618136). This variant is observed in the general population with an overall allele frequency of 0.01% (29/282724 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.158). Due to the occurrence of p.Arg2172His in the general adult population, this variant is unlikely to be associated with a severe autosomal dominant FLNB-related disease such as atelosteogenesis types I (AOI) and III (AOIII) or Piepkorn osteochondrodysplasia (Robertson 2020); however, due to limited information regarding the p.Arg2172His variant, its clinical significance for a milder or autosomal recessive condition cannot be excluded. REFERENCES Robertson S. FLNB Disorders. 2008 Oct 9 (Updated 2020 Feb 13). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK2534/
CeGaT Center for Human Genetics Tuebingen RCV000756188 SCV001153988 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000756188 SCV002235165 likely benign not provided 2024-07-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279511 SCV002566699 uncertain significance Connective tissue disorder 2021-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533120 SCV003742464 likely benign Inborn genetic diseases 2022-11-30 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.
GeneDx RCV000756188 SCV003798929 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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