ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.653A>G (p.Tyr218Cys) (rs548449293)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000313992 SCV000612365 uncertain significance not specified 2017-02-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726464 SCV000344865 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
Invitae RCV000556854 SCV000645921 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-10-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 218 of the ANO5 protein (p.Tyr218Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs548449293, ExAC 0.03%). This variant has not been reported in the literature in individuals with ANO5-related disease. ClinVar contains an entry for this variant (Variation ID: 290329). 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"). 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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