ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.3G>C (p.Met1Ile)

dbSNP: rs1676383079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002598340 SCV002953370 uncertain significance Hereditary spastic paraplegia 4 2023-07-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1917540). Disruption of the initiator codon has been observed in individual(s) with clinical features of SPAST-related conditions (PMID: 30476002). This sequence change affects the initiator methionine of the SPAST mRNA. The next in-frame methionine is located at codon 87. This variant disrupts a region of the SPAST protein in which other variant(s) (p.Glu43Gln) have been observed in individuals with SPAST-related conditions (PMID: 16055926). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.

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