ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.523C>A (p.Gln175Lys)

dbSNP: rs769831589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002562138 SCV002215609 uncertain significance Developmental and epileptic encephalopathy, 54 2022-11-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1437992). 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. This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 175 of the HNRNPU protein (p.Gln175Lys).

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