ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.64G>C (p.Val22Leu)

gnomAD frequency: 0.00007  dbSNP: rs183463487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556592 SCV000636796 uncertain significance Perlman syndrome 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the DIS3L2 protein (p.Val22Leu). This variant is present in population databases (rs183463487, gnomAD 0.05%). 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: 463124). 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 leucine 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 RCV000556592 SCV002030104 uncertain significance Perlman syndrome 2021-05-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002527772 SCV003710594 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.64G>C (p.V22L) alteration is located in exon 3 (coding exon 2) of the DIS3L2 gene. This alteration results from a G to C substitution at nucleotide position 64, causing the valine (V) at amino acid position 22 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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