Submissions for variant NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) (rs771435248)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000658467	SCV000780239	uncertain significance	not provided	2018-05-30	criteria provided, single submitter	clinical testing	The V1287I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1287I variant is observed in 17/277186 (0.0061%) alleles in large population cohorts (Lek et al., 2016). The V1287I 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	RCV001080173	SCV001096628	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2019-12-31	criteria provided, single submitter	clinical testing

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