ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)

gnomAD frequency: 0.00002  dbSNP: rs137853060
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851722 SCV002177079 pathogenic not provided 2024-09-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 211 of the PRKN protein (p.Lys211Asn). This variant is present in population databases (rs137853060, gnomAD 0.004%). This missense change has been observed in individual(s) with early-onset Parkinson disease (PMID: 11222808, 15970950, 25833766). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7051). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRKN protein function. Experimental studies have shown that this missense change affects PRKN function (PMID: 25591737). For these reasons, this variant has been classified as Pathogenic.
Human Genetics Bochum, Ruhr University Bochum RCV000007467 SCV004704497 likely pathogenic Autosomal recessive juvenile Parkinson disease 2 2023-05-09 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PM1, PP3_MOD, PS3_SUP, PP2
Mayo Clinic Laboratories, Mayo Clinic RCV001851722 SCV005413767 pathogenic not provided 2023-10-09 criteria provided, single submitter clinical testing PM2_moderate, PM3_strong, PS3_moderate, PS4_moderate
Fulgent Genetics, Fulgent Genetics RCV005031405 SCV005669396 likely pathogenic Autosomal recessive juvenile Parkinson disease 2; Ovarian cancer; Lung cancer 2024-04-17 criteria provided, single submitter clinical testing
OMIM RCV000007467 SCV000027667 pathogenic Autosomal recessive juvenile Parkinson disease 2 2005-09-01 no assertion criteria provided literature only
Solve-RD Consortium RCV004766986 SCV005091299 likely pathogenic Ovarian cancer 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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