ClinVar Miner

Submissions for variant NM_003124.5(SPR):c.616C>T (p.Gln206Ter)

gnomAD frequency: 0.00001  dbSNP: rs1030979700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003138653 SCV003820067 uncertain significance Dopa-responsive dystonia due to sepiapterin reductase deficiency 2022-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778793 SCV004612149 pathogenic Dystonic disorder 2023-09-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2436316). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SPR protein in which other variant(s) (p.Lys251*) have been determined to be pathogenic (PMID: 16917893, 18502672, 21431957, 21677200, 24212389, 25763508, 29116116). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SPR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln206*) in the SPR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acid(s) of the SPR protein.

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