ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.2984G>A (p.Arg995Gln)

gnomAD frequency: 0.00001  dbSNP: rs1289240183
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University RCV001839052 SCV001809935 likely pathogenic Weill-Marchesani 4 syndrome, recessive 2021-08-03 no assertion criteria provided clinical testing The c.2984G>A (p.R995Q) variant in ADAMTS17 was identified in a Chinese family with autosomal recessive Weill-Marchesani syndrome, which was compound heterozygous with the c.2254A>G variant and segregated in this family of five individuals. The c.2984G>A variant was reported in dbSNP (rs1289240183) with a frequency of 0.00007 in the European population and 0.00000 in Asia. In addition, the amino acid site is highly conserved in various animals, and the variant was suggested to be damaging in some in silico prediction programs. Thus, we consider this variant as likely pathogenic.

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