ClinVar Miner

Submissions for variant NM_031157.4(HNRNPA1):c.649G>A (p.Gly217Ser)

gnomAD frequency: 0.00001  dbSNP: rs759577941
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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 RCV003135599 SCV003808703 uncertain significance not provided 2019-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973769 SCV004788156 uncertain significance HNRNPA1-related disorder 2024-02-15 no assertion criteria provided clinical testing The HNRNPA1 c.649G>A variant is predicted to result in the amino acid substitution p.Gly217Ser. This variant was reported in an individual with amyotrophic lateral sclerosis (Table S2, Liu et al. 2021. PubMed ID: 34275688). This variant is reported in 0.0058% of alleles in individuals of Latino 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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