ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2144C>T (p.Pro715Leu)

dbSNP: rs1640595714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061767 SCV001226522 uncertain significance Shprintzen-Goldberg syndrome 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 715 of the SKI protein (p.Pro715Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SKI-related conditions. 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.

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