ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.79G>C (p.Asp27His)

gnomAD frequency: 0.00001  dbSNP: rs780747005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535106 SCV000636803 uncertain significance Perlman syndrome 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 27 of the DIS3L2 protein (p.Asp27His). This variant is present in population databases (rs780747005, gnomAD 0.003%). 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: 463130). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002528351 SCV003689847 uncertain significance Inborn genetic diseases 2022-11-03 criteria provided, single submitter clinical testing The c.79G>C (p.D27H) 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 79, causing the aspartic acid (D) at amino acid position 27 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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