ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1563G>T (p.Leu521Phe) (rs190937193)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000393887 SCV000333440 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000703928 SCV000832855 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 521 of the ANO5 protein (p.Leu521Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs190937193, ExAC 0.04%). This variant has not been reported in the literature in individuals with ANO5-related disease. ClinVar contains an entry for this variant (Variation ID: 282165). 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: "Benign"; 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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