ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.471_473del (p.Pro158del)

gnomAD frequency: 0.00004  dbSNP: rs764877312
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268696 SCV001447823 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001542552 SCV001652803 likely pathogenic Autosomal recessive early-onset Parkinson disease 7 2021-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001268696 SCV002585019 likely pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing PARK7: PM2, PS3:Moderate, PM3:Supporting, PM4:Supporting
Invitae RCV001542552 SCV002945415 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2021-12-27 criteria provided, single submitter clinical testing This variant, c.471_473del, results in the deletion of 1 amino acid(s) of the PARK7 protein (p.Pro158del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764877312, gnomAD 0.01%). This variant has been observed in individual(s) with Parkinson disease (PMID: 18973254). ClinVar contains an entry for this variant (Variation ID: 987356). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects PARK7 function (PMID: 20806408, 23183826, 23241025). 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.
Genomics England Pilot Project, Genomics England RCV001542552 SCV001760039 likely pathogenic Autosomal recessive early-onset Parkinson disease 7 no assertion criteria provided clinical testing

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