ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.75T>C (p.Pro25=)

gnomAD frequency: 0.69055  dbSNP: rs1923095
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843753 SCV000985791 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512893 SCV001720390 benign Dowling-Degos disease 2 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001512893 SCV002031607 benign Dowling-Degos disease 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000843753 SCV005315031 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975360 SCV004790886 benign POFUT1-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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