ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.206G>A (p.Gly69Glu)

gnomAD frequency: 0.00001  dbSNP: rs746738124
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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 RCV001371185 SCV001567743 uncertain significance Eichsfeld type congenital muscular dystrophy 2022-05-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 69 of the SELENON protein (p.Gly69Glu). This variant is present in population databases (rs746738124, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SELENON-related conditions. ClinVar contains an entry for this variant (Variation ID: 1061578). 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"). 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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