Submissions for variant NC_000002.11:g.(?_44548495)_(44571745_?)del

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004583711	SCV005063336	pathogenic	Myasthenic syndrome, congenital, 22	2023-01-14	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with PREPL-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PREPL protein in which other variant(s) (p.Lys698Asn) have been determined to be pathogenic (PMID: 32707643). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is a gross deletion of the genomic region encompassing exon(s) 3-14 of the PREPL gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. If SLC3A1 has been tested and no copy number events are reported for it, then the 3' boundary of this event lies between the PREPL and SLC3A1 genes. This deletion is expected to alter mRNA translation or to result in a truncated or absent protein product.