Submissions for variant NM_024589.3(ROGDI):c.822+8C>T

gnomAD frequency: 0.00168  dbSNP: rs376868221

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475111	SCV000561651	likely benign	Amelocerebrohypohidrotic syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000475111	SCV003920401	uncertain significance	Amelocerebrohypohidrotic syndrome	2022-08-18	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 0.2% (34/16696) (https://gnomad.broadinstitute.org/variant/16-4847707-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:416250). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant 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. However, 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.
PreventionGenetics, part of Exact Sciences	RCV003970349	SCV004785605	likely benign	ROGDI-related disorder	2022-04-11	no assertion criteria provided	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).