ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.196A>C (p.Arg66=) (rs751923342)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520815 SCV000619692 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing The c.196 A>C (R66=) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 1/11492 (0.0087%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). c.196 A>C is a synonymous variant, and in silico analysis predicts this variant likely does not alter gene splicing. However, this variant occurs at a position that is conserved across species. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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