Submissions for variant NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)

gnomAD frequency: 0.00017  dbSNP: rs371716779

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001042695	SCV001206394	likely benign	Hereditary spastic paraplegia 11	2024-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001759744	SCV001996655	uncertain significance	not provided	2019-11-05	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002339213	SCV002637413	uncertain significance	Inborn genetic diseases	2021-09-12	criteria provided, single submitter	clinical testing	The p.L1625F variant (also known as c.4873C>T), located in coding exon 28 of the SPG11 gene, results from a C to T substitution at nucleotide position 4873. The leucine at codon 1625 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab	RCV002468114	SCV002763885	uncertain significance	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468115	SCV002763886	uncertain significance	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001042695	SCV002763887	uncertain significance	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing