ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.861G>A (p.Gly287=)

gnomAD frequency: 0.00024  dbSNP: rs368610108
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000471889 SCV000469878 uncertain significance 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, 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.
Illumina Laboratory Services, Illumina RCV000313561 SCV000469879 likely 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 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 RCV000471889 SCV000563053 likely benign Supravalvar aortic stenosis 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001579470 SCV000721276 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579470 SCV004010672 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ELN: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579470 SCV001807383 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579470 SCV001974995 likely benign not provided no assertion criteria provided clinical testing

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