ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)

gnomAD frequency: 0.00025  dbSNP: rs113643181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689547 SCV000817201 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288806 SCV001476170 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001288806 SCV002541897 uncertain significance not provided 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544846 SCV003719840 likely benign Inborn genetic diseases 2021-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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