ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu)

gnomAD frequency: 0.00142  dbSNP: rs115937511
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297524 SCV000348237 benign Ectopia lentis 2, isolated, autosomal recessive 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000967919 SCV001115343 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281005 SCV001468404 uncertain significance Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 2021-03-30 criteria provided, single submitter clinical testing ADAMTSL4 NM_019032.5 exon 13 p.Ser696Leu (c.2087C>T): This variant has not been reported in the literature but is present in 0.8% (213/24258) of African alleles in the Genome Aggregation Database, including 2 homozygotes (https://gnomad.broadinstitute.org/variant/1-150530009-C-T). This variant is present in ClinVar (Variation ID:292544). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV000967919 SCV005325475 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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