ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1243G>A (p.Val415Met)

gnomAD frequency: 0.00001  dbSNP: rs770481744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001837760 SCV000264226 uncertain significance Disproportionate tall stature 2015-04-01 criteria provided, single submitter clinical testing
Invitae RCV001853315 SCV002276263 uncertain significance Shprintzen-Goldberg syndrome 2021-10-10 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) performed at Invitae indicates that this missense variant is not expected to disrupt SKI protein function. ClinVar contains an entry for this variant (Variation ID: 222821). This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is present in population databases (rs770481744, ExAC 0.003%). This sequence change replaces valine with methionine at codon 415 of the SKI protein (p.Val415Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.
CeGaT Center for Human Genetics Tuebingen RCV003456379 SCV004184976 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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