ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)

dbSNP: rs1269741981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802292 SCV002050128 uncertain significance Shprintzen-Goldberg syndrome 2021-01-31 criteria provided, single submitter clinical testing The SKI c.1096A>C; p.Ser366Arg variant (rs1269741981), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on a single chromosome in the Genome Aggregation Database (1/251098 alleles), indicating it is not a common polymorphism. The serine at codon 366 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.283). However, due to limited information, the clinical significance of the p.Ser366Arg variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001802292 SCV005824681 uncertain significance Shprintzen-Goldberg syndrome 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 366 of the SKI protein (p.Ser366Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1330633). 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.

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