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: 5
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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 2021-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PRKN function (PMID: 25591737). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 7051). 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 the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs137853060, gnomAD 0.004%). 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).
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
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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