ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)

gnomAD frequency: 0.00001  dbSNP: rs782307520
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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 RCV001205010 SCV001376245 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-05-20 criteria provided, single submitter clinical testing 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. 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 been observed in an individual affected with left ventricular hypertrabeculation (PMID: 28798025). This variant is present in population databases (rs782307520, ExAC 0.002%). This sequence change replaces leucine with arginine at codon 1100 of the FLNA protein (p.Leu1100Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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