ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met)

gnomAD frequency: 0.00005  dbSNP: rs201396725
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502222 SCV000594813 uncertain significance not specified 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000686436 SCV000813954 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001549890 SCV001770124 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367689 SCV002659062 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-10-04 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.
CeGaT Center for Human Genetics Tuebingen RCV001549890 SCV005433415 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing FLNA: PP3, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001549890 SCV005877199 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing The FLNA c.6370G>A p.Val2124Met variant (rs201396725), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 435204). This variant is found in the non-Finnish European population with an allele frequency of 0.015% (14/91,797 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is deleterious (REVEL: 0.859). Due to limited information, the clinical significance of this variant is uncertain at this time.

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