ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1412G>A (p.Ser471Asn)

dbSNP: rs2023216883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584019 SCV001818378 uncertain significance not provided 2021-02-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847309 SCV002105490 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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