ClinVar Miner

Submissions for variant NM_032335.3(PHF6):c.2T>C (p.Met1Thr) (rs132630300)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011817 SCV000631227 pathogenic Borjeson-Forssman-Lehmann syndrome 2018-09-18 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PHF6 mRNA. The next in-frame methionine is located at codon 46. This variant is not present in population databases (ExAC no frequency). This variant has been reported as hemizygous in individuals with Börjeson–Forssman–Lehmann syndrome (PMID: 12415272, 15994862) and in one family it segregated with disease in two affected males (PMID: 12415272, Invitae). ClinVar contains an entry for this variant (Variation ID: 11068). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011817 SCV000032050 pathogenic Borjeson-Forssman-Lehmann syndrome 2002-12-01 no assertion criteria provided literature only

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