ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del)

dbSNP: rs747301226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412787 SCV000491371 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing The c.837_839delAGA variant in the HNRNPU gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.837_839delAGA variant causes an inframe deletion of one codon, Glutamic acid 279, denoted p.Glu279del. Although not observed as homozygous, the c.837_839delAGA variant is observed in 1/17248 (0.006%) alleles from individuals of East Asian background and 2/246250 (0.0008%) total alleles in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret c.837_839delAGA as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002480265 SCV000833196 uncertain significance Developmental and epileptic encephalopathy, 54 2022-07-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 372843). This variant has been observed in individual(s) with clinical features of epileptic encephalopathy with cerebellar atrophy (PMID: 32319732). This variant, c.837_839del, results in the deletion of 1 amino acid(s) of the HNRNPU protein (p.Glu279del), but otherwise preserves the integrity of the reading frame.
Laboratory of Medical Genetics, University of Torino RCV002480265 SCV002774891 uncertain significance Developmental and epileptic encephalopathy, 54 2022-12-23 criteria provided, single submitter clinical testing

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