ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)

gnomAD frequency: 0.00324  dbSNP: rs56351817
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244521 SCV000313949 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084457 SCV000640186 benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311397 SCV000846270 likely benign Inborn genetic diseases 2016-02-22 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.
Athena Diagnostics RCV000557867 SCV001143145 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000602353 SCV001253609 benign Kufor-Rakeb syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000557867 SCV001502501 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ATP13A2: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000557867 SCV005259337 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602353 SCV000733953 likely benign Kufor-Rakeb syndrome no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000557867 SCV001972217 likely benign not provided no assertion criteria provided clinical testing

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