ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.155A>T (p.Gln52Leu)

dbSNP: rs763638263
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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 RCV000689804 SCV000817471 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2018-03-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 52 of the HNRNPDL protein (p.Gln52Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with HNRNPDL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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