ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)

gnomAD frequency: 0.00007  dbSNP: rs529316227
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218744 SCV001390642 likely benign Hereditary spastic paraplegia 11 2023-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298906 SCV002598961 uncertain significance not specified 2022-09-12 criteria provided, single submitter clinical testing Variant summary: SPG11 c.31G>C (p.Ala11Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.5e-05 in 213902 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in SPG11 causing Hereditary Spastic Paraplegia, Type 11 (6.5e-05 vs 0.0011), allowing no conclusion about variant significance. c.31G>C has been reported in the literature in at least one individual affected with distal hereditary motor neuropathy without strong evidence for causality (Bacquet_2018). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, classifying it as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Genome-Nilou Lab RCV002468190 SCV002762942 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468191 SCV002762943 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001218744 SCV002762945 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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