ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.609dup (p.His204fs) (rs1556030169)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631415 SCV000752488 likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2017-11-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HPRT1 gene (p.His204Serfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the HPRT1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HPRT1-related disease. Several different truncations (p.Cys206*, p.Gly212*, p.Tyr216*) that lie downstream of this variant have been reported in individuals affected with Lesch-Nyhan syndrome (PMID: 22132984, 11018746, 28045594). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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