ClinVar Miner

Submissions for variant NM_002137.4(HNRNPA2B1):c.505A>G (p.Asn169Asp)

dbSNP: rs1353165662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321490 SCV001512322 uncertain significance Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 181 of the HNRNPA2B1 protein (p.Asn181Asp). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1021688). This variant has not been reported in the literature in individuals affected with HNRNPA2B1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).

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