ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.836G>A (p.Arg279Gln)

gnomAD frequency: 0.00001  dbSNP: rs201329725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052410 SCV001216620 uncertain significance Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2022-04-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANO5 protein function. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 279 of the ANO5 protein (p.Arg279Gln). This variant is present in population databases (rs201329725, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANO5-related conditions. ClinVar contains an entry for this variant (Variation ID: 848616).
GeneDx RCV001759786 SCV001995317 uncertain significance not provided 2019-12-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge

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