ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)

dbSNP: rs1557176118
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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 RCV001361875 SCV001557866 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-07-29 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function. This variant has not been reported in the literature in individuals with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 492841). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 2041 of the FLNA protein (p.Arg2041His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
GeneDx RCV003313111 SCV004012364 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Mayo Clinic Laboratories, Mayo Clinic RCV003313111 SCV004225696 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing PP2, PP3, PM2_supporting
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584654 SCV000692252 uncertain significance Scoliosis 2017-08-21 no assertion criteria provided clinical testing

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