ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2129G>A (p.Gly710Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004730818 SCV005336444 uncertain significance HNRNPU-related disorder 2024-08-09 no assertion criteria provided clinical testing The HNRNPU c.2129G>A variant is predicted to result in the amino acid substitution p.Gly710Glu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating it is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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