ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310032 SCV002604282 likely pathogenic Glycogen storage disease, type VII 2022-02-25 criteria provided, single submitter clinical testing NM_001166686.1(PFKM):c.1440_1441delGG(A481Sfs*28) is expected to be pathogenic in the context of glycogen storage disease type VII. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PFKM, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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