ClinVar Miner

Submissions for variant NM_031157.4(HNRNPA1):c.696TGG[3] (p.Gly236del)

dbSNP: rs954853403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003487907 SCV004235303 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754993 SCV005351587 uncertain significance HNRNPA1-related disorder 2024-05-02 no assertion criteria provided clinical testing The HNRNPA1 c.705_707delTGG variant is predicted to result in an in-frame deletion (p.Gly236del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of East Asian 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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