ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)

dbSNP: rs137852487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851784 SCV002240936 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2020-11-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects HPRT1 protein function (PMID: 22157001). This variant has been observed in individual(s) with Lesch-Nyhan syndrome (PMID: 16549399, 17454734, 11018746). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 10044). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 70 of the HPRT1 protein (p.Gly70Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
OMIM RCV000010742 SCV000030968 pathogenic Lesch-Nyhan syndrome 1989-07-01 no assertion criteria provided literature only
OMIM RCV000010743 SCV000030969 other HPRT NEW HAVEN 2017-09-26 no assertion criteria provided literature only

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