ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.952-14A>G

gnomAD frequency: 0.00005  dbSNP: rs747845961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413124 SCV000491729 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing The Y340C variant in the GMPPB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y340C 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 Y340C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret Y340C as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058865 SCV002466453 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 2023-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133248 SCV003816925 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing

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