ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.328G>A (p.Ala110Thr)

dbSNP: rs137953195
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000327769 SCV000469868 likely benign Supravalvar aortic stenosis 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services,Illumina RCV000382394 SCV000469869 benign Cutis laxa, autosomal dominant 1 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.
GeneDx RCV000492857 SCV000582136 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing Reported in a male with sudden infant death syndrome at 3 months of age (Neubauer et al., 2017); however, additional variants were also identified, and family studies were not described; Identified independently and in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data are limited at this time; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28074886)
Invitae RCV000327769 SCV001004049 likely benign Supravalvar aortic stenosis 2021-12-02 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000984480 SCV001021977 uncertain significance Atrioventricular septal defect 2019-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000492857 SCV001501395 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing

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