ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)

dbSNP: rs137853317
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153245 SCV000202719 uncertain significance not provided 2014-01-21 criteria provided, single submitter clinical testing
Claritas Genomics RCV000012538 SCV000222855 pathogenic Oto-palato-digital syndrome, type I 2008-02-28 criteria provided, single submitter clinical testing
Invitae RCV000560177 SCV000639811 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt FLNA protein function. ClinVar contains an entry for this variant (Variation ID: 11772). This missense change has been observed in individuals with clinical features of FLNA-related conditions (PMID: 12612583, 15194946, 17264970; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 196 of the FLNA protein (p.Arg196Trp).
GeneDx RCV000153245 SCV002820867 likely pathogenic not provided 2022-07-15 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; This variant is associated with the following publications: (PMID: 33767182, 12612583, 17264970)
OMIM RCV000012538 SCV000032772 pathogenic Oto-palato-digital syndrome, type I 2007-01-01 no assertion criteria provided literature only
OMIM RCV000012539 SCV000032773 pathogenic Oto-palato-digital syndrome, type II 2007-01-01 no assertion criteria provided literature only

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