ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)

gnomAD frequency: 0.00005  dbSNP: rs138014548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490375 SCV000267204 uncertain significance Upshaw-Schulman syndrome 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV000490375 SCV001328400 likely benign Upshaw-Schulman syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515591 SCV003441401 uncertain significance not provided 2022-04-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 225292). This missense change has been observed in individual(s) with Upshaw-Schulman syndrome (PMID: 21781265). This variant is present in population databases (rs138014548, gnomAD 0.1%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 723 of the ADAMTS13 protein (p.Gln723Lys).

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