ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.610G>A (p.Gly204Ser)

gnomAD frequency: 0.00041  dbSNP: rs200929422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874280 SCV001016433 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808932 SCV005435998 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing HNRNPA2B1: PP2, BS1
PreventionGenetics, part of Exact Sciences RCV003938341 SCV004756716 likely benign HNRNPA2B1-related disorder 2023-03-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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