ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) (rs151103906)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712838 SCV000113503 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303743 SCV000388988 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000712838 SCV000589757 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the POMT2 gene. The E78Q variant has not been published in association with lissencephaly to our knowledge. The E78Q variant is observed in 32/14884 (0.2%) alleles from individuals of Finnish background in large population cohorts (Lek et al., 2016). The E78Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000712838 SCV000769996 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712838 SCV000843373 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765180 SCV000896415 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; 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 2018-10-31 criteria provided, single submitter clinical testing

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