ClinVar Miner

Submissions for variant NM_003124.5(SPR):c.524C>A (p.Ala175Asp)

gnomAD frequency: 0.00006  dbSNP: rs1453510719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995649 SCV001149943 likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency 2018-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869390 SCV002171677 uncertain significance Dystonic disorder 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 175 of the SPR protein (p.Ala175Asp). This variant is present in population databases (no rsID available, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of SPR-related conditions (PMID: 33098801, 33822819, 35872528). ClinVar contains an entry for this variant (Variation ID: 807499). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SPR protein function with a positive predictive value of 80%. 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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