ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter)

dbSNP: rs1555751597
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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 RCV000539525 SCV000647030 pathogenic Hereditary spastic paraplegia 39 2020-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1130*) in the PNPLA6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PNPLA6-related disease. ClinVar contains an entry for this variant (Variation ID: 469619). Loss-of-function variants in PNPLA6 are known to be pathogenic (PMID: 24355708). For these reasons, this variant has been classified as Pathogenic.

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