ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu)

gnomAD frequency: 0.00019  dbSNP: rs201896149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971192 SCV001118818 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002066422 SCV002495847 uncertain significance Weill-Marchesani 4 syndrome, recessive 2021-03-30 criteria provided, single submitter clinical testing ADAMTS17 NM_139057.3 exon 22 p.Pro1092Leu (c.3275C>T): This variant has not been reported in the literature but is present in 0.09% (15/15288) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-99974415-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:788711). This variant amino acid Leucine (Leu) is present in several species including multiple 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.

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