ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.507C>T (p.Pro169=)

gnomAD frequency: 0.00003  dbSNP: rs576860809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441056 SCV000536050 likely benign not specified 2017-01-17 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 RCV001470601 SCV001674697 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-11-29 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889893 SCV004705244 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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