ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly)

gnomAD frequency: 0.00001  dbSNP: rs761086215
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040612 SCV001204197 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 2022-11-15 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 838953). This variant has not been reported in the literature in individuals affected with FKBP14-related conditions. This variant is present in population databases (rs761086215, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 186 of the FKBP14 protein (p.Asp186Gly).

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