ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) (rs374253638)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825921 SCV000967406 uncertain significance not specified 2018-07-03 criteria provided, single submitter clinical testing The p.Ala536Ser variant in ELN has not been previously reported in individuals w ith pulmonary disease but has been identified in 1/5484 chromosomes of various p opulations by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs374253638). Computational prediction tools and conservation ana lysis suggest that the p.Ala536Ser variant may impact the protein, though this i nformation is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala536Ser variant is uncertain. ACMG/AMP Criteria applied: PP3.
Illumina Clinical Services Laboratory,Illumina RCV001161895 SCV001323807 uncertain significance Cutis laxa, autosomal dominant 1 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, 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 Clinical Services Laboratory,Illumina RCV001161896 SCV001323808 uncertain significance Supravalvar aortic stenosis 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, 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.

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