ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys)

gnomAD frequency: 0.00007  dbSNP: rs199945885
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001729398 SCV006097929 likely benign not provided 2025-05-01 criteria provided, single submitter clinical testing PHF6: BS2
Fulgent Genetics, Fulgent Genetics RCV000634411 SCV005683320 likely benign Borjeson-Forssman-Lehmann syndrome 2024-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634411 SCV000755714 likely benign Borjeson-Forssman-Lehmann syndrome 2024-04-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407522 SCV004114839 uncertain significance PHF6-related disorder 2024-04-17 no assertion criteria provided clinical testing The PHF6 c.487C>T variant is predicted to result in the amino acid substitution p.Arg163Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including in 4 hemizygous individuals. Although we suspect this variant may possibly be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729398 SCV001980244 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729398 SCV001979072 uncertain significance not provided no assertion criteria provided clinical testing
ITMI RCV000121804 SCV000086002 not provided not specified 2013-09-19 no assertion provided reference population

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