ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7439_7440inv (p.Pro2480Gln)

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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 RCV002820637 SCV003206235 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2004912). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 2472 of the FLNA protein (p.Pro2472Gln). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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