ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)

dbSNP: rs1600477446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990271 SCV001141199 pathogenic Pigmentary pallidal degeneration 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990271 SCV002229427 pathogenic Pigmentary pallidal degeneration 2023-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr190*) in the PANK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 803593). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245821 SCV002512734 likely pathogenic Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration 2021-05-07 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252289 SCV002523740 pathogenic See cases 2020-06-24 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2

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