ClinVar Miner

Submissions for variant NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter)

gnomAD frequency: 0.00002  dbSNP: rs140695299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135073 SCV003809143 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003135073 SCV004293137 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg132*) 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 (rs140695299, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Dowling–Degos disease (PMID: 24387993, 29931677). ClinVar contains an entry for this variant (Variation ID: 2435127). For these reasons, this variant has been classified as Pathogenic.

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