ClinVar Miner

Submissions for variant NM_000484.4(APP):c.1795G>A (p.Glu599Lys)

gnomAD frequency: 0.00143  dbSNP: rs140304729
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710589 SCV000840831 benign not provided 2017-11-28 criteria provided, single submitter clinical testing
Invitae RCV001079081 SCV001015881 benign Alzheimer disease 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079081 SCV001303817 likely benign Alzheimer disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000710589 SCV002544657 benign not provided 2023-08-01 criteria provided, single submitter clinical testing APP: PP3, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003945730 SCV004758841 likely benign APP-related condition 2021-12-31 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).
Myllykangas group, University of Helsinki RCV001263174 SCV001250686 uncertain significance Vascular dementia 2020-04-01 no assertion criteria provided research

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