ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys)

gnomAD frequency: 0.00004  dbSNP: rs141056078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508644 SCV001714927 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488310 SCV002792450 uncertain significance Upshaw-Schulman syndrome 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002567994 SCV003580246 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.3599C>A (p.T1200K) alteration is located in exon 26 (coding exon 26) of the ADAMTS13 gene. This alteration results from a C to A substitution at nucleotide position 3599, causing the threonine (T) at amino acid position 1200 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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