ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe)

dbSNP: rs1557175878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502889 SCV000594825 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing
Invitae RCV000640738 SCV000762337 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-07-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 435211). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 2284 of the FLNA protein (p.Ser2284Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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