ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)

dbSNP: rs1060500716
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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 RCV002230317 SCV000543674 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-07-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1223 of the FLNA protein (p.Pro1223Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with frontometaphyseal dysplasia (PMID: 21821884). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 405445). 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. For these reasons, this variant has been classified as Pathogenic.

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