ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.786C>T (p.Cys262=)

gnomAD frequency: 0.00001  dbSNP: rs1237741171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318056 SCV000849692 likely benign Inborn genetic diseases 2017-06-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533027 SCV003516448 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-06-07 criteria provided, single submitter clinical testing

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