ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)

gnomAD frequency: 0.00258  dbSNP: rs149185431
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147679 SCV000195130 uncertain significance Microcephaly 7, primary, autosomal recessive 2012-12-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000174071 SCV000225307 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000147679 SCV000611524 uncertain significance Microcephaly 7, primary, autosomal recessive 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000887897 SCV001031488 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000147679 SCV001254501 uncertain significance Microcephaly 7, primary, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics RCV000887897 SCV001474801 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000887897 SCV001831895 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26548919, 23772360)
CeGaT Center for Human Genetics Tuebingen RCV000887897 SCV004032949 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing STIL: BP4, BP5
GenomeConnect - Brain Gene Registry RCV000147679 SCV003931228 not provided Microcephaly 7, primary, autosomal recessive no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 12-06-2016 by Baylor Medical Genetics Laboratories. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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