ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) (rs267606962)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671290 SCV000796251 likely pathogenic Muscle eye brain disease 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV000824425 SCV000965323 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 605 of the POMGNT1 protein (p.Arg605Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with muscular dystrophy-dystroglycanopathy (PMID: 19679478, 23689641, 19299310, 24731844). ClinVar contains an entry for this variant (Variation ID: 3998). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg605 amino acid residue in POMGNT1. Other variant(s) that disrupt this residue (p.Arg605His) have been observed in individuals with POMGNT1-related conditions (PMID: 24731844, 21361872), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000004205 SCV000024371 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2009-05-26 no assertion criteria provided literature only

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