ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.169del (p.Ala57fs)

dbSNP: rs1578086972
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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 RCV000809925 SCV000950108 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2018-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala57Profs*19) in the HNRNPDL gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HNRNPDL cause disease. 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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