ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)

gnomAD frequency: 0.00001  dbSNP: rs747363386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878087 SCV002164365 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2022-07-05 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSEN1 protein function. ClinVar contains an entry for this variant (Variation ID: 1388899). This variant has not been reported in the literature in individuals affected with PSEN1-related conditions. This variant is present in population databases (rs747363386, gnomAD 0.005%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 148 of the PSEN1 protein (p.Ile148Val). 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.

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