ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser)

gnomAD frequency: 0.00001  dbSNP: rs782149159
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230322 SCV000543683 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2016-12-03 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs782149159, ExAC 0.002%) but has not been reported in the literature in individuals with a FLNA-related disease. This sequence change replaces glycine with serine at codon 1096 of the FLNA protein (p.Gly1096Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

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