ClinVar Miner

Submissions for variant NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) (rs140512665)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202689 SCV000257923 uncertain significance not specified 2015-06-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000202689 SCV000861154 likely benign not specified 2018-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000657868 SCV000779628 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The S81C variant has been reported in the homozygous state in a patient with recurrent and multiple fractures but normal sclerae and teeth (Essawi et al., 2017). The S81C variant is observed in 251/277180 (0.0906%) alleles in large population cohorts, including in the apparent homozygous state in multiple apparently unaffected individuals (Lek et al., 2016). The S81C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000317548 SCV000400883 uncertain significance Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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