ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1915G>C (p.Ala639Pro)

dbSNP: rs762363254
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529213 SCV000636751 uncertain significance Perlman syndrome 2017-07-19 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DIS3L2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 639 of the DIS3L2 protein (p.Ala639Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.

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