ClinVar Miner

Submissions for variant NM_003124.5(SPR):c.262C>T (p.Arg88Trp)

gnomAD frequency: 0.00001  dbSNP: rs564501639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805761 SCV002053772 likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency criteria provided, single submitter clinical testing
Ambry Genetics RCV002541447 SCV003564988 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.262C>T (p.R88W) alteration is located in exon 1 (coding exon 1) of the SPR gene. This alteration results from a C to T substitution at nucleotide position 262, causing the arginine (R) at amino acid position 88 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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