ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)

gnomAD frequency: 0.00001  dbSNP: rs750585566
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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 RCV001961930 SCV002130448 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2021-06-15 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with PSEN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces valine with isoleucine at codon 191 of the PSEN1 protein (p.Val191Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.

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