ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) (rs80338732)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000010613 SCV000040925 pathologic Charcot-Marie-Tooth disease, X-linked recessive, type 5 2008-08-26 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000695028 SCV000823502 likely pathogenic Charcot-Marie-Tooth Neuropathy X 2018-04-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 115 of the PRPS1 protein (p.Met115Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5) in a family (PMID: 17701900). ClinVar contains an entry for this variant (Variation ID: 9935). Experimental studies have shown that this missense change leads to decreased enzyme activity (PMID: 17701900). A different missense substitution at this codon (p.Met115Val) has been reported in an individual affected with CMTX (PMID: 25182139). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000010613 SCV000030839 pathogenic Charcot-Marie-Tooth disease, X-linked recessive, type 5 2007-09-01 no assertion criteria provided literature only

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