ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1889C>T (p.Ala630Val)

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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 RCV005234597 SCV005877429 uncertain significance Shprintzen-Goldberg syndrome 2024-10-16 criteria provided, single submitter clinical testing The SKI c.1889C>T; p.Ala630Val variant (rs1435032825), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.492). Due to limited information, the clinical significance of this variant is uncertain at this time.

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