ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.373C>A (p.Arg125Ser)

dbSNP: rs876659418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319278 SCV001182572 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-02-27 criteria provided, single submitter clinical testing The p.R125S variant (also known as c.373C>A), located in coding exon 4 of the NF1 gene, results from a C to A substitution at nucleotide position 373. The arginine at codon 125 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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