ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) (rs1569360120)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678321 SCV000804380 uncertain significance Lesch-Nyhan syndrome 2018-03-06 criteria provided, single submitter provider interpretation This variant was identified in a 12 year old male with mild intellectual disability, motor speech disorder, adaptive deficits, dyspraxia, hypotonia, ADHD, bifid uvula, mild dolichocephaly, large ears, mild pectus excavatum, hypoplastic nipples, and slightly tapered fingers. This variant is absent from the gnomAD database. Computational prediction models are inconsistent. This variant has not been reported previously in the literature, to our knowledge. However, other missense variants in this exon are present in ClinVar and the Human Gene Mutation Database. This variant was not present in either of the proband's two healthy, adult brothers. Follow up urine testing included: uric acid (104.1 mg/dL) and creatinine (74 mg/dL). Additionally, whole exome sequencing also identified two additional variants of uncertain significance.

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