ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)

dbSNP: rs587777669
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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 RCV000133585 SCV000957634 pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1G 2024-02-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 378 of the HNRNPDL protein (p.Asp378Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 24647604, 30604053). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 144073). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant disrupts the p.Asp378 amino acid residue in HNRNPDL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24647604; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000133585 SCV003808715 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2019-05-17 criteria provided, single submitter clinical testing
OMIM RCV000133585 SCV000188650 pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1G 2014-08-01 no assertion criteria provided literature only

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