ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.382A>G (p.Thr128Ala)

gnomAD frequency: 0.00018  dbSNP: rs138969879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224794 SCV001397016 likely benign Hereditary spastic paraplegia 11 2024-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563059 SCV003685320 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.382A>G (p.T128A) alteration is located in exon 2 (coding exon 2) of the SPG11 gene. This alteration results from a A to G substitution at nucleotide position 382, causing the threonine (T) at amino acid position 128 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057123 SCV005725534 uncertain significance not specified 2024-11-27 criteria provided, single submitter clinical testing Variant summary: SPG11 c.382A>G (p.Thr128Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 251388 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in SPG11 causing Hereditary Spastic Paraplegia, Type 11 (4e-05 vs 0.0011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.382A>G in individuals affected with Hereditary Spastic Paraplegia, Type 11 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 952649). Based on the evidence outlined above, the variant was classified as uncertain significance.

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