ClinVar Miner

Submissions for variant NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp)

gnomAD frequency: 0.07775  dbSNP: rs35424709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258275 SCV001435200 benign Central core myopathy criteria provided, single submitter research The p.Glu646Asp variant in ATP13A4 has been identified in 6 individuals with autism spectrum disorder (PMID: 15925480). However, this variant is classified as benign for autism spectrum disorder because it has been identified in >5% of European (non-Finnish) chromosomes by ExAC (http://gnomad.broadinstitute.org/).
Breakthrough Genomics, Breakthrough Genomics RCV004716715 SCV005298372 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918810 SCV004732013 benign ATP13A4-related disorder 2020-09-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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