ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.583C>T (p.Arg195Trp) (rs149040903)

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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 RCV000710580 SCV000840822 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710580 SCV000707337 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV000645353 SCV000767097 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 195 of the ANO5 protein (p.Arg195Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs149040903, ExAC 0.04%). This variant has not been reported in the literature in individuals with ANO5-related disease. 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 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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