ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp)

dbSNP: rs2102987181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808909 SCV002059160 likely pathogenic Developmental and epileptic encephalopathy, 54 2022-01-03 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.924, 3CNET: 0.927, PP3_P). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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