ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs763131369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249676 SCV002516135 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV001260915 SCV001232150 likely pathogenic Amyotrophic lateral sclerosis type 15 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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