ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del)

dbSNP: rs776731510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998779 SCV001155055 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001225457 SCV001397738 uncertain significance Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2024-01-01 criteria provided, single submitter clinical testing This variant, c.967_969del, results in the deletion of 1 amino acid(s) of the HNRNPA2B1 protein (p.Gly323del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776731510, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HNRNPA2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 810077). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000998779 SCV003808706 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001225457 SCV004171344 uncertain significance Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 criteria provided, single submitter clinical testing The inframe deletion c.931_933del (p.Gly311del) variant in HNRNPA2B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly311del variant is reported with an allele frequency of 0.01 in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. This variant has been reported to the ClinVar database as Uncertain Significance. This p.Gly311del causes deletion of amino acid Glycine at position 311. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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