ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.143G>A (p.Arg48His) (rs387906725)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690811 SCV000818539 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2019-09-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 48 of the HPRT1 protein (p.Arg48His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with HPRT1-related disease (PMID: 1301916, 10737990, 17454734, 20981450, 22157001, 22999896). ClinVar contains an entry for this variant (Variation ID: 29985). Experimental studies have shown that this missense change reduces HPRT enzymatic activity (PMID: 20981450, 25481104). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092162 SCV001248543 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
OMIM RCV000022877 SCV000044168 pathogenic Lesch-nyhan syndrome, neurologic variant 2011-01-01 no assertion criteria provided literature only
OMIM RCV001255647 SCV001432208 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 2011-01-01 no assertion criteria provided literature only

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