ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2417A>G (p.Tyr806Cys) (rs755040619)

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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 RCV000293412 SCV000333495 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Invitae RCV000700577 SCV000829336 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-09-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 806 of the ANO5 protein (p.Tyr806Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs755040619, ExAC 0.002%). This variant has been observed in combination with another ANO5 variant in an individual affected with anoctaminopathy (PMID: 23606453). Additionally, this variant has been observed in an affected individual in which a second ANO5 variant was not detected (PMID:23606453). ClinVar contains an entry for this variant (Variation ID: 282180). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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