ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.441C>A (p.Asp147Glu)

dbSNP: rs539279281
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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 RCV002547849 SCV001562548 uncertain significance Developmental and epileptic encephalopathy, 54 2022-03-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1057298). This missense change has been observed in individual(s) with clinical features of HNRNPU-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 147 of the HNRNPU protein (p.Asp147Glu).

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