ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1109T>C (p.Val370Ala)

gnomAD frequency: 0.00008  dbSNP: rs138088528
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522336 SCV000618067 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SKI gene. The V370A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 12/126,684 alleles (0.01%) from individuals of European (Non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The V370A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function.
Invitae RCV001857959 SCV002210879 likely benign Shprintzen-Goldberg syndrome 2023-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001857959 SCV002775591 uncertain significance Shprintzen-Goldberg syndrome 2021-09-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001857959 SCV004565030 uncertain significance Shprintzen-Goldberg syndrome 2023-04-17 criteria provided, single submitter clinical testing The SKI c.1109T>C; p.Val370Ala variant (rs138088528), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 449711). This variant is found in the non-Finnish European population with an allele frequency of 0.0093% (12/129,096 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.172). Due to limited information, the clinical significance of this variant is uncertain at this time.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000522336 SCV001951556 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000522336 SCV001971819 likely benign not provided no assertion criteria provided clinical testing

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