ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) (rs143891379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027768 SCV001190372 uncertain significance Weill-Marchesani syndrome 4 2019-11-04 criteria provided, single submitter clinical testing ADAMTS17 NM_139057.3 exon 21 p.Ser1015Leu (c.3044C>T): This variant has not been reported in the literature but is present in 0.01% (119/75650) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/15-100516333-G-A?dataset=gnomad_r2_1). This variant amino acid Leucine (Leu) is present in >15 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV001027768 SCV001273668 likely benign Weill-Marchesani syndrome 4 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 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.

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