ClinVar Miner

Submissions for variant NM_000311.5(PRNP):c.462G>A (p.Met154Ile)

gnomAD frequency: 0.00002  dbSNP: rs144302267
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690098 SCV000817775 uncertain significance Huntington disease-like 1 2022-10-14 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 PRNP protein function. ClinVar contains an entry for this variant (Variation ID: 569467). This variant has not been reported in the literature in individuals affected with PRNP-related conditions. This variant is present in population databases (rs144302267, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 154 of the PRNP protein (p.Met154Ile).

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