ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.128C>T (p.Pro43Leu)

dbSNP: rs748553069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295917 SCV001484869 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2020-05-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 43 of the HNRNPDL protein (p.Pro43Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with HNRNPDL-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database.
Revvity Omics, Revvity RCV001295917 SCV003808708 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2019-11-25 criteria provided, single submitter clinical testing

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