ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His)

dbSNP: rs145922030
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Total submissions: 3
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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 RCV001027769 SCV001190373 uncertain significance Weill-Marchesani 4 syndrome, recessive 2021-03-30 criteria provided, single submitter clinical testing ADAMTS17 NM_139057.3 exon 14 p.Asp650His (c.1948G>C): This variant has not been reported in the literature but is present in 0.002% (5/24924) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-100649262-C-G). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002552426 SCV003034161 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 827968). This variant has not been reported in the literature in individuals affected with ADAMTS17-related conditions. This variant is present in population databases (rs145922030, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 650 of the ADAMTS17 protein (p.Asp650His).
Ambry Genetics RCV003160186 SCV003896081 uncertain significance Inborn genetic diseases 2023-02-10 criteria provided, single submitter clinical testing The c.1948G>C (p.D650H) alteration is located in exon 14 (coding exon 14) of the ADAMTS17 gene. This alteration results from a G to C substitution at nucleotide position 1948, causing the aspartic acid (D) at amino acid position 650 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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