ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7405C>T (p.Pro2469Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003789868 SCV004576994 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-03-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2461 of the FLNA protein (p.Pro2461Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. 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) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function. 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.
Ambry Genetics RCV004366569 SCV004870541 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-18 criteria provided, single submitter clinical testing The c.7381C>T (p.P2461S) alteration is located in exon 45 (coding exon 44) of the FLNA gene. This alteration results from a C to T substitution at nucleotide position 7381, causing the proline (P) at amino acid position 2461 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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