Submissions for variant NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)

gnomAD frequency: 0.00016  dbSNP: rs142509316

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625314	SCV000373178	uncertain significance	Cutis laxa, autosomal recessive, type 1B	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001707637	SCV000723522	likely benign	not provided	2021-03-25	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625314	SCV000744892	likely benign	Cutis laxa, autosomal recessive, type 1B	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000625314	SCV000771787	likely benign	Cutis laxa, autosomal recessive, type 1B	2024-01-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625314	SCV002049726	likely benign	Cutis laxa, autosomal recessive, type 1B	2023-04-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446556	SCV002682757	likely benign	Cardiovascular phenotype	2020-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003950026	SCV004760202	likely benign	EFEMP2-related disorder	2020-05-07	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625314	SCV000745736	likely benign	Cutis laxa, autosomal recessive, type 1B	2016-11-01	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001707637	SCV001958273	likely benign	not provided		no assertion criteria provided	clinical testing