ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2350A>G (p.Met784Val) (rs202191109)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658466 SCV000780238 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The M784V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M784V variant is observed in 33/246018 (0.0142%) alleles in large population cohorts (Lek et al., 2016). The M784V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001082525 SCV001096629 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing

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