ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) (rs1602750626)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808202 SCV000948298 uncertain significance Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HPRT1 gene (p.Tyr216*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acids of the HPRT1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be hemizygous in brothers affected with X-linked recessive Lesch-Nyhan disease (PMID: 28045594). Experimental studies have shown that this missense change resulted in complete deficiency of HGprt enzyme activity in affected individuals (PMID: 28045594). 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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