ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1751del (p.Gly584fs)

dbSNP: rs1345546964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001824195 SCV002073748 likely pathogenic Hereditary spastic paraplegia 49 2022-02-05 criteria provided, single submitter clinical testing The c.1751del;p.(Gly584Glufs*62) is a null frameshift variant (NMD) in the TECPR2 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. The variant is present at low allele frequencies population databases (rs1345546964– gnomAD 0.00006575%; ABraOM no frequency - http://abraom.ib.usp.br/) -PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001824195 SCV003007809 pathogenic Hereditary spastic paraplegia 49 2022-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly584Glufs*62) in the TECPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TECPR2 are known to be pathogenic (PMID: 23176824, 25590979).

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