ClinVar Miner

Submissions for variant NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000034326 SCV003270213 uncertain significance Maple syrup urine disease, mild variant 2022-06-21 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this premature translational stop signal affects PPM1K function (PMID: 23086801). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This premature translational stop signal has been observed in individual(s) with Maple syrup urine disease (PMID: 23086801). This variant is present in population databases (rs757046744, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change creates a premature translational stop signal (p.Thr140Profs*12) in the PPM1K gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PPM1K cause disease.
OMIM RCV000034326 SCV000058278 pathogenic Maple syrup urine disease, mild variant 2013-02-01 no assertion criteria provided literature only

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