ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2018A>G (p.Tyr673Cys) (rs137854527)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ANO5 @LOVD RCV000128776 SCV000172418 not provided not provided no assertion provided not provided
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128776 SCV000706079 pathogenic not provided 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000645348 SCV000767092 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-10-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 673 of the ANO5 protein (p.Tyr673Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with limb-girdle muscular dystrophy in a single family (PMID: 21186264). This variant has also been reported in combination with another ANO5 variant in several individuals affected with limb-girdle muscular dystrophy type 2L (LGMD2L) and persistent asymptomatic hyperCK-emia (PACK) (PMID: 23670307, 22980763, 23606453). ClinVar contains an entry for this variant (Variation ID: 140555). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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