ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1516A>G (p.Ser506Gly) (rs141799673)

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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 RCV000592037 SCV000704301 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000699271 SCV000827973 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 506 of the ANO5 protein (p.Ser506Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs141799673, ExAC 0.01%). This variant has been reported in the heterozygous state in an affected individual with limb-girdle muscular dystrophy/uncharacterized myopathy (PMID: 25891276). ClinVar contains an entry for this variant (Variation ID: 499011). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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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