ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.185A>G (p.Gln62Arg) (rs754497228)

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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 RCV000354682 SCV000336047 uncertain significance not provided 2015-10-04 criteria provided, single submitter clinical testing
Invitae RCV000800829 SCV000940565 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 62 of the ANO5 protein (p.Gln62Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs754497228, ExAC 0.009%). This variant has not been reported in the literature in individuals with ANO5-related disease. ClinVar contains an entry for this variant (Variation ID: 283746). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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