Submissions for variant NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val)

gnomAD frequency: 0.00096  dbSNP: rs141952128

Total submissions: 3

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	RCV000767885	SCV000898505	uncertain significance	Weill-Marchesani syndrome 1	2021-03-30	criteria provided, single submitter	clinical testing	ADAMTS10 NM_030957 exon 4 p.Ala117Val (c.350C>T): This variant has not been reported in the literature. This variant is present in 0.2% (70/23392) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/19-8669982-G-A). This variant amino acid Valine (Val) is present in one species (hedgehog) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae	RCV000895483	SCV001039525	likely benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918250	SCV004734259	likely benign	ADAMTS10-related condition	2023-04-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).