ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=)

gnomAD frequency: 0.00176  dbSNP: rs113882528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909303 SCV001054101 benign not provided 2017-12-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336865 SCV001530376 uncertain significance Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 2018-12-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004533482 SCV004731575 likely benign PI4KA-related disorder 2019-05-01 no assertion criteria provided 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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