ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2385C>T (p.His795=)

gnomAD frequency: 0.00136  dbSNP: rs143914980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611354 SCV000717487 likely benign not specified 2017-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086269 SCV001002638 benign Hereditary spastic paraplegia 39 2023-12-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000862172 SCV001145123 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848986 SCV002105503 likely benign Hereditary spastic paraplegia 2021-11-02 criteria provided, single submitter clinical testing

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