ClinVar Miner

Submissions for variant NM_031157.4(HNRNPA1):c.908-5C>T

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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 RCV004730346 SCV005339116 uncertain significance HNRNPA1-related disorder 2024-05-22 no assertion criteria provided clinical testing The HNRNPA1 c.908-5C>T variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0064% of alleles in individuals of African descent in gnomAD. 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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