ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) (rs114501042)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657945 SCV000231370 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000657945 SCV000779715 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RELN gene. The R2955C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 80/18854 (0.4%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). The R2955C 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 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 RCV000552441 SCV000656369 likely benign Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2017-10-31 criteria provided, single submitter clinical testing

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