ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.839G>A (p.Ser280Asn) (rs142485035)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150000 SCV000196860 uncertain significance not specified 2017-07-31 criteria provided, single submitter clinical testing The S280N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The S280N variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however it was observed in 1/57 alleles from individuals of Nigerian background, indicating it may be a rare (benign) variant in this population. This substitution alters a conserved position in the lumenal domain of the POMGNT1 protein and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the S280N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725700 SCV000338697 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763935 SCV000894880 uncertain significance Muscle eye brain disease; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Retinitis pigmentosa 76 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001083649 SCV001016407 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2019-12-31 criteria provided, single submitter clinical testing

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