ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=)

gnomAD frequency: 0.00202  dbSNP: rs150392453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712783 SCV000725351 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712783 SCV000843310 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
Invitae RCV001081614 SCV001002021 benign Hereditary spastic paraplegia 39 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905628 SCV004726440 likely benign PNPLA6-related condition 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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