ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) (rs137852489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631414 SCV000752487 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2017-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln109*) in the HPRT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Lesch-Nyhan syndrome (PMID: 9288634, 2347587) and the variant was reported to be de novo in the carrier parent of one of these individuals. ClinVar contains an entry for this variant (Variation ID: 10046). Experimental studies have shown that this nonsense change also leads to aberrant mRNA splicing (PMID: 9288634, 1934271). Loss-of-function variants in HPRT1 are known to be pathogenic (PMID: 15571220, 17027311, 22157001). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000010746 SCV000030972 pathogenic Lesch-Nyhan syndrome 1990-06-01 no assertion criteria provided literature only

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