ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2245G>A (p.Val749Met)

gnomAD frequency: 0.00003  dbSNP: rs755574750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532877 SCV000636771 uncertain significance Perlman syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 749 of the DIS3L2 protein (p.Val749Met). This variant is present in population databases (rs755574750, gnomAD 0.02%). 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: 463099). 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 expected to disrupt DIS3L2 protein function with a positive 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 RCV000532877 SCV000895430 uncertain significance Perlman syndrome 2018-10-31 criteria provided, single submitter clinical testing

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