ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1229dup (p.Ser411fs)

dbSNP: rs2146058319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863396 SCV002117177 pathogenic Hereditary spastic paraplegia 39 2020-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser372Leufs*22) in the PNPLA6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PNPLA6 are known to be pathogenic (PMID: 24355708). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PNPLA6-related conditions. This variant is not present in population databases (ExAC no frequency).

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