ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)

gnomAD frequency: 0.00005  dbSNP: rs369947678
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625776 SCV000746322 likely benign Amyotrophic lateral sclerosis 2020-05-03 criteria provided, single submitter clinical testing
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV000022846 SCV001251005 uncertain significance Amyotrophic lateral sclerosis type 15 2020-03-31 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000022846 SCV001332455 uncertain significance Amyotrophic lateral sclerosis type 15 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000022846 SCV002408370 benign Amyotrophic lateral sclerosis type 15 2022-04-20 criteria provided, single submitter clinical testing
GeneDx RCV003441723 SCV004168002 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26944018, 25333069, 26075709, 29161404, 27834214, 28716533, 25398946, 25616961, 26152284, 21857683, 25681989, 34426522, 35047667, 32579787, 30982635, 33891006, 33919255, 31324802, 31942019, 31167121, 32513711, 37039476, 36423739, 35936615, 31319884, 32290710, Durmus2023[Casereport])
PreventionGenetics, part of Exact Sciences RCV003944836 SCV004763487 likely benign UBQLN2-related disorder 2023-04-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000022846 SCV000044135 pathogenic Amyotrophic lateral sclerosis type 15 2011-08-21 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000022846 SCV001142501 likely pathogenic Amyotrophic lateral sclerosis type 15 2020-01-06 no assertion criteria provided curation NM_013444.3:c.1573C>T in the UBQLN2 gene has an allele frequency of 0.007 in Ashkenazi Jewish subpopulation in the gnomAD database. The p.Pro525Ser (NM_013444.3:c.1573C>T) variant has been detected in families affected with amyotrophic lateral sclerosis (PMID: 21857683). Functional studies suggest that p.Pro525Ser exhibited intermediate solubility phenotypes compared to wild type (PMID: 29161404). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PS3; PP4; PM2.

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