ClinVar Miner

Submissions for variant NM_139026.5(ADAMTS13):c.3307+143del (rs1060499780)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000454327 SCV000538012 likely pathogenic Upshaw-Schulman syndrome 2015-12-04 criteria provided, single submitter clinical testing The c.3541delG (p.Gln1183Argfs*43) frameshift variant in the ADAMTS13 gene is a novel variant and has not been previously reported. This c.3541delG variant is predicted to cause premature protein termination in exon 26 (out of a total of 29 exons in the coding sequence). Frameshift variants resulting in premature termination codons have been described in the ADAMTS13 gene in several affected individuals, including a single base-pair duplication of thymine (T) (c.3770dupT) (exon 27) (Levi et al., 2001) as well as a duplication of adenine (A), c.4143dupA (exon 29) (Schneppenheim et al., 2003) that are both predicted to result in protein truncation further down-stream from c.3541delG. This suggests that loss of function is a mechanism of disease. The c.3541delG variant has not been reported in the three control population databases (Exome Sequencing Project [ESP], 1000 Genomes, and ExAC). Therefore, this collective evidence supports the classification of the c.3541delG (p.Gln1183Argfs*43) as a recessive likely pathogenic variant for congenital TPP.

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