ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)

dbSNP: rs34316445
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513395 SCV000609080 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FBXO7: BS2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000615906 SCV000744151 uncertain significance Parkinsonian-pyramidal syndrome 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV000615906 SCV001020618 benign Parkinsonian-pyramidal syndrome 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000615906 SCV001307541 uncertain significance Parkinsonian-pyramidal 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000513395 SCV001822757 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27294386, 25174650)
PreventionGenetics, part of Exact Sciences RCV003942668 SCV004760861 likely benign FBXO7-related condition 2023-03-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615906 SCV000734127 uncertain significance Parkinsonian-pyramidal syndrome no assertion criteria provided clinical testing

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