ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.649-2A>G (rs773736505)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000663413 SCV000786701 likely pathogenic Limb-girdle muscular dystrophy, type 2L criteria provided, single submitter research The heterozygous c.649-2A>G variant was identified in the compound heterozygous state by our study in one individual with Limb-Girdle Muscular Dystrophy. The c.649-2A>G variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Although this variant has not been previously reported, other canonical splice site variants have been reported in association with ANO5-related disorders (LOVD, ClinVar, HGMD). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.

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