ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.501C>T (p.Tyr167=)

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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 RCV003525560 SCV004251943 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2022-11-24 criteria provided, single submitter clinical testing This sequence change affects codon 167 of the HNRNPDL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HNRNPDL protein. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with HNRNPDL-related conditions. This variant is present in population databases (rs149258996, gnomAD 0.01%).

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