ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2271del (p.Met757fs)

gnomAD frequency: 0.00001  dbSNP: rs1217391623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625997 SCV000746603 pathogenic Hereditary spastic paraplegia 7 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625997 SCV001216339 likely pathogenic Hereditary spastic paraplegia 7 2023-01-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 522825). This frameshift has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 27557734; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the SPG7 gene (p.Met757Ilefs*66). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the SPG7 protein and extend the protein by 26 additional amino acid residues.

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