Submissions for variant NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)

gnomAD frequency: 0.00093  dbSNP: rs557830930

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000312997	SCV000337984	uncertain significance	not provided	2015-12-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344052	SCV000484086	likely benign	Curry-Hall syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382272	SCV000484087	likely benign	Ellis-van Creveld syndrome	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.
Invitae	RCV001086716	SCV000634712	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000312997	SCV000883819	uncertain significance	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002518959	SCV003678719	uncertain significance	Inborn genetic diseases	2022-09-29	criteria provided, single submitter	clinical testing	The c.92T>C (p.L31P) alteration is located in exon 1 (coding exon 1) of the EVC2 gene. This alteration results from a T to C substitution at nucleotide position 92, causing the leucine (L) at amino acid position 31 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003930108	SCV004742852	likely benign	EVC2-related condition	2020-04-15	criteria provided, single submitter	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).