ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.334G>A (p.Val112Ile)

dbSNP: rs2147682370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001870272 SCV002120867 uncertain significance Charcot-Marie-Tooth Neuropathy X 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 112 of the PRPS1 protein (p.Val112Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRPS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002489973 SCV002780517 uncertain significance Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity 2021-12-23 criteria provided, single submitter clinical testing

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