ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)

gnomAD frequency: 0.00002  dbSNP: rs781959191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061077 SCV001225808 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160489 SCV003912782 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-27 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.
Genetics and Molecular Pathology, SA Pathology RCV003447576 SCV004175546 uncertain significance Thrombocytopenia 2020-02-10 criteria provided, single submitter clinical testing The FLNA c.7559G>A variant is classified as VUS (PM2, PP3) The FLNA c.7559G>A variant is a single nucleotide change in exon 47 of 48 of the FLNA gene, which is predicted to change the amino acid arginine at position 2520 in the protein to histidine. The variant is rare in population databases (PM2). Computational predictions support a deleterious effect on the gene or gene product (PP3). The variant has been reported in dbSNP (rs781959191). It has not been reported in ClinVar or HGMD.

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