ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1543C>G (p.Pro515Ala)

gnomAD frequency: 0.00003  dbSNP: rs538188509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819058 SCV000959700 uncertain significance Perlman syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 515 of the DIS3L2 protein (p.Pro515Ala). This variant is present in population databases (rs538188509, gnomAD 0.004%). 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: 661605). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Baylor Genetics RCV000819058 SCV002030252 uncertain significance Perlman syndrome 2021-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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