Submissions for variant NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)

gnomAD frequency: 0.00646  dbSNP: rs34135067

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082504	SCV000290184	benign	Gorlin syndrome; Medulloblastoma	2024-02-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000423552	SCV000511079	likely benign	not provided	2016-09-27	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000423552	SCV000522511	benign	not provided	2020-01-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16760173, 28717660, 24728327, 12068298, 21188540, 17102621, 22508808, 28051113)
Ambry Genetics	RCV000563391	SCV000675267	benign	Hereditary cancer-predisposing syndrome	2016-12-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000423552	SCV000699411	benign	not provided	2016-05-25	criteria provided, single submitter	clinical testing	Variant summary: The SUFU c.1018G>T (p.Ala340Ser) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a benign outcome. This variant was found in 733/120930 control chromosomes (including 5 homozygotes), predominantly observed in the European (Finnish) subpopulation at a frequency of 0.0105836 (70/6614). This frequency is about 10499 times the estimated maximal expected allele frequency of a pathogenic SUFU variant (0.000001), suggesting this is a benign polymorphism found primarily in the populations of European (Finnish) origin. Taken together, this variant is classified as Benign.
Illumina Laboratory Services, Illumina	RCV001103677	SCV001260469	likely benign	Medulloblastoma	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000423552	SCV001474625	benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000423552	SCV002046447	benign	not provided	2022-06-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000423552	SCV002497078	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SUFU: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV002477319	SCV002803525	benign	Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32	2021-07-26	criteria provided, single submitter	clinical testing
ITMI	RCV000122097	SCV000086312	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000122097	SCV001809650	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000122097	SCV001958758	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000423552	SCV001975639	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000423552	SCV002037055	likely benign	not provided		no assertion criteria provided	clinical testing