ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) (rs1057518150)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413626 SCV000491581 likely pathogenic not provided 2016-10-17 criteria provided, single submitter clinical testing The R24Q variant in the SPRED1 gene has been previously reported in multiple individuals in a single family with cafe au lait macules in whom no NF1 pathogenic variant was identified (Hirata et al., 2016). The R24Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R24Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties and occurs at a position that is conserved across species. Functional studies of the R24Q variant demonstrated mildly reduced binding to neurofibromin and reduced ERK suppression activity (Hirata et al., 2016). The R24Q variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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