ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr)

dbSNP: rs1569551926
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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 RCV002233343 SCV000829322 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2018-05-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with FLNA-related disease. This sequence change replaces asparagine with tyrosine at codon 66 of the FLNA protein (p.Asn66Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine.

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