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: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522336 SCV000618067 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp 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.
CeGaT Center for Human Genetics Tuebingen RCV000522336 SCV005330931 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing
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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