ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2210A>G (p.Asp737Gly)

gnomAD frequency: 0.00001  dbSNP: rs769764733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538334 SCV000636766 uncertain significance Perlman syndrome 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 737 of the DIS3L2 protein (p.Asp737Gly). This variant is present in population databases (rs769764733, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 463094). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DIS3L2 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000538334 SCV000895429 uncertain significance Perlman syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002281107 SCV002569550 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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