ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)

gnomAD frequency: 0.00001  dbSNP: rs199634446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591400 SCV000708748 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591400 SCV002214475 pathogenic not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1279 of the STIL protein (p.Arg1279Cys). This variant is present in population databases (rs199634446, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of primary microcephaly (PMID: 24986681, 26633542, 33132204). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as p.Arg1280Cys. ClinVar contains an entry for this variant (Variation ID: 502127). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt STIL protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Daryl Scott Lab, Baylor College of Medicine RCV001263538 SCV002515279 uncertain significance Microcephaly 7, primary, autosomal recessive 2022-02-01 criteria provided, single submitter clinical testing
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province RCV001263538 SCV001427363 likely pathogenic Microcephaly 7, primary, autosomal recessive no assertion criteria provided clinical testing

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