ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1173G>A (p.Leu391=)

dbSNP: rs1679218212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090862 SCV001246620 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090862 SCV001446591 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV001391505 SCV001450953 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391505 SCV003221062 uncertain significance Hereditary spastic paraplegia 4 2022-07-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPAST-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 871091). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 391 of the SPAST mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SPAST protein. This variant also falls at the last nucleotide of exon 8, which is part of the consensus splice site for this exon.

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