Submissions for variant NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)

gnomAD frequency: 0.00048  dbSNP: rs147753803

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173928	SCV000225108	uncertain significance	not provided	2015-03-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107946	SCV001265134	benign	Exostoses, multiple, type 2	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001107946	SCV001650042	likely benign	Exostoses, multiple, type 2	2024-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516605	SCV003528509	uncertain significance	Inborn genetic diseases	2021-10-05	criteria provided, single submitter	clinical testing	The c.1534G>T (p.V512L) alteration is located in exon 10 (coding exon 9) of the EXT2 gene. This alteration results from a G to T substitution at nucleotide position 1534, causing the valine (V) at amino acid position 512 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.