ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1969_1972del (p.Lys656_Glu657insTer)

dbSNP: rs757837545
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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 RCV001958417 SCV002222186 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu657*) in the SPART gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acid(s) of the SPART protein. This variant is present in population databases (rs757837545, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 33589474). This variant is also known as SPG20 p.Glu657Ter. 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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