Total submissions: 3
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 |