ClinVar Miner

Submissions for variant NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) (rs137853317)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000012538 SCV000222855 pathogenic Oto-palato-digital syndrome, type I 2008-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153245 SCV000202719 uncertain significance not provided 2014-01-21 criteria provided, single submitter clinical testing
Invitae RCV000560177 SCV000639811 likely pathogenic Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2018-05-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 196 of the FLNA protein (p.Arg196Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency) . This variant has been reported in male individuals affected with otopalatodigital syndrome types I and II, and in the unaffected mother of one proband (PMID: 12612583, 17264970, 15194946, Invitae). ClinVar contains an entry for this variant (Variation ID: 11772). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
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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