ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.294G>A (p.Ala98=) (rs142858990)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724236 SCV000231254 uncertain significance not provided 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000724236 SCV000617767 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ANO5 gene. The c.294 G>A variant was previously identified in the heterozygous state in two unrelated patients with LGMD or an unspecified myopathy; however, additional clinical information was not provided and parental testing was not performed (Savarese et al., 2015). The c.294 G>A variant is observed in 66/62906 (0.1%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved. Functional studies demonstrate aberrant splicing resulting in a shortened protein (Savarese et al., 2015). However, splice variants in nearby residues have not been reported in the Human Gene Mutation Database in association with ANO5-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000724236 SCV000645917 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing

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