Submissions for variant NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp)

gnomAD frequency: 0.00001  dbSNP: rs753980126

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001035840	SCV001199179	uncertain significance	Hereditary spastic paraplegia 11	2022-03-01	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2060 of the SPG11 protein (p.Glu2060Asp). This variant is present in population databases (rs753980126, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 835037). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV001507877	SCV001713698	uncertain significance	not provided	2019-10-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468109	SCV002763739	uncertain significance	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468110	SCV002763741	uncertain significance	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001035840	SCV002763742	uncertain significance	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing