ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.1463G>A (p.Arg488Gln) (rs766382416)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479982 SCV000571942 likely pathogenic not provided 2016-10-17 criteria provided, single submitter clinical testing The R488Q variant in the POMGNT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R488Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R488Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (C490Y and P493R) have been reported in the Human Gene Mutation Database in association with POMGNT1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. The R488Q variant is a strong candidate for a pathogenic variant.
Counsyl RCV000984206 SCV001132273 uncertain significance Muscle eye brain disease 2017-11-02 no assertion criteria provided clinical testing
Counsyl RCV000984207 SCV001132274 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2017-11-02 no assertion criteria provided clinical testing
Counsyl RCV000984208 SCV001132275 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 2017-11-02 no assertion criteria provided clinical testing
Counsyl RCV000984209 SCV001132276 uncertain significance Retinitis pigmentosa 76 2017-11-02 no assertion criteria provided clinical testing

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