ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)

dbSNP: rs797044753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178845 SCV000231010 uncertain significance not provided 2014-09-24 criteria provided, single submitter clinical testing
Invitae RCV001312936 SCV001503411 likely pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 245 of the FLNA protein (p.Glu245Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with FLNA-related conditions (PMID: 16835913; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 197727). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNA protein function. 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.

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