ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783561 SCV004569737 likely pathogenic Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2023-02-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 expected to disrupt ANO5 protein function. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 518 of the ANO5 protein (p.Gly518Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with gnathodiaphyseal dysplasia (PMID: 28176803). In at least one individual the variant was observed to be de novo.

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