ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1042G>A (p.Glu348Lys)

gnomAD frequency: 0.00004  dbSNP: rs370217718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374753 SCV001439486 uncertain significance Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research
Invitae RCV001366944 SCV001563269 uncertain significance Shprintzen-Goldberg syndrome 2022-12-21 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SKI protein function. ClinVar contains an entry for this variant (Variation ID: 982318). This missense change has been observed in individual(s) with isolated thoracic aortic aneurysm (PMID: 33824467). This variant is present in population databases (rs370217718, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 348 of the SKI protein (p.Glu348Lys).

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