Submissions for variant NM_004115.4(FGF14):c.636T>C (p.His212=)

gnomAD frequency: 0.00149  dbSNP: rs41281644

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625190	SCV000382067	benign	Spinocerebellar ataxia type 27	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000517714	SCV000613285	benign	not specified	2020-12-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625190	SCV000744071	likely benign	Spinocerebellar ataxia type 27	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625190	SCV000745519	likely benign	Spinocerebellar ataxia type 27	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886230	SCV001029725	benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000886230	SCV004135114	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FGF14: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003910153	SCV004720336	likely benign	FGF14-related disorder	2019-08-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).