ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.684del (p.Val229fs)

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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. RCV002307991 SCV002604455 likely pathogenic Phytanic acid storage disease 2022-03-03 criteria provided, single submitter clinical testing NM_006214.3(PHYH):c.684delA(V229Lfs*21) 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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