ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) (rs141339355)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712831 SCV000843366 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712831 SCV000233121 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000712831 SCV000617873 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing The R349W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R349W variant is observed in 59/22866 (0.3%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R349W 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000648186 SCV000770000 likely benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2017-12-05 criteria provided, single submitter clinical testing

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