ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1729G>A (p.Glu577Lys)

gnomAD frequency: 0.00002  dbSNP: rs750651562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689758 SCV000817424 uncertain significance Perlman syndrome 2023-03-19 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 569186). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. This variant is present in population databases (rs750651562, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 577 of the DIS3L2 protein (p.Glu577Lys).

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