ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.2833G>T (p.Glu945Ter)

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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. RCV002309643 SCV002603521 likely pathogenic Hereditary spastic paraplegia 15 2022-02-12 criteria provided, single submitter clinical testing NM_015346.3(ZFYVE26):c.2833G>T(E945*) is expected to be pathogenic in the context of spastic paraplegia type 15. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ZFYVE26, 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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