ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1609A>G (p.Lys537Glu)

gnomAD frequency: 0.00003  dbSNP: rs954655897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638496 SCV000760020 uncertain significance Perlman syndrome 2023-09-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 531939). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 537 of the DIS3L2 protein (p.Lys537Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. 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. 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.
Sema4, Sema4 RCV000638496 SCV002532397 uncertain significance Perlman syndrome 2021-08-20 criteria provided, single submitter curation

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