ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.640A>G (p.Ser214Gly)

gnomAD frequency: 0.00013  dbSNP: rs139179843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722084 SCV000250669 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551275 SCV000637302 likely benign Shprintzen-Goldberg syndrome 2023-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000551275 SCV002506123 uncertain significance Shprintzen-Goldberg syndrome 2022-02-03 criteria provided, single submitter clinical testing The SKI c.640A>G; p.Ser214Gly variant (rs139179843), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213685). This variant is found in the Non-Finnish European population with an allele frequency of 0.025% (30/120324 alleles) in the Genome Aggregation Database. The serine at codon 214 is weakly conserved, but computation analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.325). Due to limited information, the clinical significance of the p.Ser214Gly variant is uncertain at this time.
Ambry Genetics RCV002363009 SCV002661205 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000551275 SCV003920476 uncertain significance Shprintzen-Goldberg syndrome 2022-06-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest MAF: 0.025% [30/120324]) and in ClinVar (Variation ID: 213685). Evolutionary conservation and computational predictive tools suggest that this variant does not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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