ClinVar Miner

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

dbSNP: rs1269741981
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Total submissions: 1
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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.

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