ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1630+5del (rs1064795273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483554 SCV000570924 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing The c.1630+5delG variant in the ANO5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant results in the deletion of a single base pair within intron 15, which reduces the quality of the splice donor site and is expected to cause abnormal gene splicing. The c.1630+5delG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1630+5delG as a variant of uncertain significance.
Invitae RCV000699039 SCV000827734 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-06-18 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the ANO5 gene. It does not directly change the encoded amino acid sequence of the ANO5 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ANO5-related disease. ClinVar contains an entry for this variant (Variation ID: 421648). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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