ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)

dbSNP: rs2067803076
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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 RCV001217843 SCV001389700 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-07-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 39 of the FLNA protein (p.Ala39Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). 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. This variant disrupts the p.Ala39 amino acid residue in FLNA. Other variant(s) that disrupt this residue have been observed in individuals with FLNA-related conditions (PMID: 15668422, 22366253), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FLNA-related conditions.

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