ClinVar Miner

Submissions for variant NM_000484.4(APP):c.713AAG[3] (p.Glu241del)

dbSNP: rs754150568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962870 SCV002211115 uncertain significance Alzheimer disease 2024-08-14 criteria provided, single submitter clinical testing This variant, c.722_724del, results in the deletion of 1 amino acid(s) of the APP protein (p.Glu241del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs755788810, gnomAD 0.01%). This variant has been observed in individual(s) with Parkinson's disease and dementia (PMID: 25604855, 35861376). ClinVar contains an entry for this variant (Variation ID: 1437591). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003418221 SCV004116903 uncertain significance APP-related disorder 2024-08-08 no assertion criteria provided clinical testing The APP c.722_724delAAG variant is predicted to result in an in-frame deletion (p.Glu241del). This variant has been reported in patients with Parkinson disease (Chen et al. 2022. PubMed ID: 35861376; Schulte et al. 2015. PubMed ID: 25604855). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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