ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)

gnomAD frequency: 0.00023  dbSNP: rs201883464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710707 SCV000840996 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317939 SCV000849720 likely benign Inborn genetic diseases 2018-06-13 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 RCV001083694 SCV001016674 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710707 SCV001334595 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing

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