ClinVar Miner

Submissions for variant NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) (rs137852494)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153366 SCV000202850 pathogenic not provided 2013-12-02 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000010761 SCV000923596 pathogenic Lesch-Nyhan syndrome 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001224361 SCV001396551 pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 2020-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg51*) 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 observed in individuals affected with Lesch-Nyhan disease (PMID: 17027311, 25481104). ClinVar contains an entry for this variant (Variation ID: 10060). 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 RCV000010761 SCV000030987 pathogenic Lesch-Nyhan syndrome 1990-04-01 no assertion criteria provided literature only
OMIM RCV000010762 SCV000030988 other HPRT FUJIMI 2011-05-12 no assertion criteria provided literature only
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252944 SCV001164087 uncertain significance Microcephaly no assertion criteria provided research

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