Submissions for variant NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)

gnomAD frequency: 0.00193  dbSNP: rs139912214

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000174311	SCV000195133	likely benign	not specified	2017-04-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000174311	SCV000225592	likely benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000210579	SCV000262963	likely benign	Inborn genetic diseases	2013-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000174311	SCV000519711	benign	not specified	2018-02-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513904	SCV000610846	likely benign	not provided	2017-05-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513904	SCV000692629	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	STIL: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000513904	SCV001095720	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000986319	SCV001135287	likely benign	Microcephaly 7, primary, autosomal recessive	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000513904	SCV001145813	benign	not provided	2019-06-17	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000174311	SCV004847465	likely benign	not specified	2024-03-21	criteria provided, single submitter	clinical testing	The p.Leu438Phe variant in STIL is classified as likely benign because it has been identified in 0.9% (267/29604) of Ashkenazi Jewish chromosomes, 0.4% (29/6060) of Middle Eastern chromosomes and 0.3% (156/60012) of Admixed American chromosomes, including 6 total homozygotes by gnomAD (http://gnomad.broadinstitute.org, v.4.0.0). In addition, computational prediction tools predict that this variant does not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000454157	SCV000537981	likely pathogenic	Abnormal brain morphology		flagged submission	research