ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.3119_3120del (p.Ser1040fs)

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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. RCV002309236 SCV002603046 likely pathogenic Hereditary spastic paraplegia 15 2022-03-30 criteria provided, single submitter clinical testing NM_015346.3(ZFYVE26):c.3119_3120delCA(S1040Cfs*23) 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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