ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2182C>A (p.Gln728Lys)

gnomAD frequency: 0.00001  dbSNP: rs889723987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647184 SCV001519283 pathogenic Spastic ataxia 2021-07-12 criteria provided, single submitter research
GeneDx RCV004762091 SCV005373292 uncertain significance not provided 2024-04-04 criteria provided, single submitter clinical testing Observed as heterozygous variant in patient with ataxia in published literature; however, variants in other genes were also identified (PMID: 34445196); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34445196)

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