ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.767A>G (p.Asp256Gly)

dbSNP: rs781224944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230110 SCV001402580 uncertain significance Perlman syndrome 2021-12-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 957177). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. This variant is present in population databases (rs781224944, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 256 of the DIS3L2 protein (p.Asp256Gly).

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