ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs)

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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. RCV002307941 SCV002604405 likely pathogenic Phytanic acid storage disease 2022-03-02 criteria provided, single submitter clinical testing NM_006214.3(PHYH):c.549_550delCAinsT(R184Gfs*34) is expected to be pathogenic in the context of PHYH-related refsum disease. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PHYH, 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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