ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.173G>A (p.Arg58Gln) (rs749698519)

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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 RCV000595603 SCV000701886 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Invitae RCV000813205 SCV000953550 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-07-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 58 of the ANO5 protein (p.Arg58Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs749698519, 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: 497402). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Variants that disrupt the p.Arg58 amino acid residue in ANO5 have been observed in affected individuals (PMID: 23670307, 22499103, 25891276, 27854218, 23041008). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. 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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