Submissions for variant NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)

gnomAD frequency: 0.00001  dbSNP: rs587777294

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000820407	SCV000961118	pathogenic	not provided	2024-12-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg218*) in the POGLUT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POGLUT1 are known to be pathogenic (PMID: 24387993). This variant is present in population databases (rs587777294, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Dowling-Degos disease (PMID: 24387993, 27479915). ClinVar contains an entry for this variant (Variation ID: 126529). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000820407	SCV005042363	pathogenic	not provided	2024-04-01	criteria provided, single submitter	clinical testing	POGLUT1: PVS1, PM2, PS4:Supporting
OMIM	RCV000114420	SCV000148352	pathogenic	Dowling-Degos disease 4	2014-01-02	no assertion criteria provided	literature only