ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6145C>T (p.Arg2049Cys)

gnomAD frequency: 0.00001  dbSNP: rs782740450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788463 SCV000927588 uncertain significance not provided 2018-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869207 SCV002206093 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-10-20 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. ClinVar contains an entry for this variant (Variation ID: 636591). This missense change has been observed in individual(s) with clinical features of FLNA-related conditions (PMID: 30986657). This variant is present in population databases (rs782740450, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 2041 of the FLNA protein (p.Arg2041Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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