ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.345G>A (p.Leu115=)

dbSNP: rs975757101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069174 SCV001234325 uncertain significance Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2019-12-16 criteria provided, single submitter clinical testing This sequence change affects codon 115 of the ANO5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ANO5 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of autosomal recessive limb-girdle muscular dystrophy (PMID: 24239059). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 24239059). 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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