ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) (rs763131369)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV001260915 SCV001232150 likely pathogenic Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 2020-04-14 no assertion criteria provided clinical testing Arguments in favor of its pathogenicity are: i) two different early-onset probands have been reported with the same variant; ii) the variant is located in a functional domain important for HSP70 interaction; iii) the amino acid is highly conserved; iv) the variant has a low frequency (5 mutated alleles in a total of 183347 alleles). Arguments against the pathogenic effect are: i) the variant was transmitted to both patients by an unaffected mother

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