ClinVar Miner

Submissions for variant NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro)

dbSNP: rs1556026984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624209 SCV000742089 likely pathogenic Inborn genetic diseases 2017-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315950 SCV000848655 likely pathogenic Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2019-10-09 criteria provided, single submitter clinical testing The p.A50P variant (also known as c.148G>C), located in coding exon 3 of the HPRT1 gene, results from a G to C substitution at nucleotide position 148. The alanine at codon 50 is replaced by proline, an amino acid with highly similar properties. In one study, this alteration was detected in an individual with HGprt-related neurological dysfunction (HND). In addition, authors used fibroblast cultures to show that both Hprt and Hprt enzyme activity for this alteration was significantly reduced (less than 2%) compared to normal controls (Fu R et al. Mol. Genet. Metab., 2015 Jan;114:55-61). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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