ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1630+2T>G (rs1590300702)

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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 RCV001004964 SCV001164502 likely pathogenic Limb-girdle muscular dystrophy, type 2L 2018-12-03 criteria provided, single submitter research The homozygous c.1630+2T>G variant in ANO5 was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. The c.1630+2T>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, this information is not predictive enough to determine pathogenicity. Loss of function of the ANO5 gene is an established disease mechanism in autosomal recessive LGMD. In summary, although additional studies are required to fully establish its clinical significance, the c.1630+2T>G variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1 (Richards 2015).

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