ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.87G>A (p.Glu29=) (rs1554919178)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710583 SCV000840825 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV000538355 SCV000645925 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-05-26 criteria provided, single submitter clinical testing This sequence change affects codon 29 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 also falls at the last nucleotide of exon 2 of the ANO5 coding sequence, which is part of the consensus splice site for this exon. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an ANO5-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on ANO5 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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