Submissions for variant NM_031483.7(ITCH):c.1570-3del

dbSNP: rs759646195

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002171486	SCV002477599	benign	Syndromic multisystem autoimmune disease due to ITCH deficiency	2024-01-04	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002171486	SCV003924212	uncertain significance	Syndromic multisystem autoimmune disease due to ITCH deficiency	2022-10-04	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.06% (41/67652) (https://gnomad.broadinstitute.org/variant/20-34477760-AT-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1553215). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 1 nucleotide in the intronic region with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Splice prediction tools do not suggest that this variant may affect splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.