Submissions for variant NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)

dbSNP: rs781285980

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000704426	SCV000833375	uncertain significance	Hereditary spastic paraplegia 7	2024-11-11	criteria provided, single submitter	clinical testing	This variant, c.21_23dup, results in the insertion of 1 amino acid(s) of the SPG7 protein (p.Leu8dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781285980, gnomAD 0.2%). This variant has been observed in individual(s) with spastic paraplegia (PMID: 21623769). ClinVar contains an entry for this variant (Variation ID: 580781). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV000761967	SCV000892195	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SPG7: PM4:Supporting
GeneDx	RCV000761967	SCV001764445	uncertain significance	not provided	2024-06-21	criteria provided, single submitter	clinical testing	Identified in a single individual with spastic paraplegia in whom a second variant in the SPG7 gene was not identified (PMID: 21623769); In-frame duplication of 1 amino acid in a repetitive region with no known function; This variant is associated with the following publications: (PMID: 21623769)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849069	SCV002105873	uncertain significance	Hereditary spastic paraplegia	2020-09-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000761967	SCV005192879	uncertain significance	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV000761967	SCV005622572	uncertain significance	not provided	2024-06-24	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004817941	SCV005070767	uncertain significance	Optic atrophy	2022-01-01	no assertion criteria provided	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004817940	SCV005073492	uncertain significance	Retinal dystrophy	2022-01-01	no assertion criteria provided	clinical testing