ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup)

dbSNP: rs781960834
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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 RCV000693625 SCV000821500 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-10-22 criteria provided, single submitter clinical testing This variant, c.5051_5068dup, results in the insertion of 6 amino acid(s) of the FLNA protein (p.Asp1684_Asp1689dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781960834, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 572282). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811445 SCV002049882 uncertain significance not provided 2020-11-10 criteria provided, single submitter clinical testing The FLNA c.5051_5068dup; p.Asp1684_Asp1689dup variant (rs781960834), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database (Variation ID: 572282). This variant is found in the general population with an overall allele frequency of 0.0006% (1/181,607 alleles) in the Genome Aggregation Database. This variant is a duplication of 18 nucleotides (6 amino acids) that leaves the rest of the FLNA protein in frame. Based on the available information, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002343475 SCV002645886 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-05-17 criteria provided, single submitter clinical testing The c.5051_5068dup18 variant (also known as p.D1684_D1689dup), located in coding exon 29 of the FLNA gene, results from an in-frame duplication of 18 nucleotides at nucleotide positions 5051 to 5068. This results in the duplication of 6 extra residues (DGSEVD) between codons 1684 and 1689. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001811445 SCV004014610 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 6 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function

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