ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.754G>T (p.Asp252Tyr)

dbSNP: rs1680869300
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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 RCV002568631 SCV001418999 uncertain significance Developmental and epileptic encephalopathy, 54 2021-04-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces aspartic acid with tyrosine at codon 252 of the HNRNPU protein (p.Asp252Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HNRNPU-related conditions. ClinVar contains an entry for this variant (Variation ID: 970173). 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.

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