ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.311C>G (p.Ala104Gly)

gnomAD frequency: 0.00001  dbSNP: rs961696042
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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 RCV001935411 SCV002180973 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2022-03-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 104 of the HNRNPDL protein (p.Ala104Gly). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HNRNPDL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV005343132 SCV006013757 uncertain significance not specified 2025-02-08 criteria provided, single submitter clinical testing The c.311C>G (p.A104G) alteration is located in exon 1 (coding exon 1) of the HNRNPDL gene. This alteration results from a C to G substitution at nucleotide position 311, causing the alanine (A) at amino acid position 104 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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