ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8285A>C (p.Tyr2762Ser)

dbSNP: rs1597870238
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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 RCV002445192 SCV001189835 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-03-26 criteria provided, single submitter clinical testing The p.Y2741S variant (also known as c.8222A>C), located in coding exon 56 of the NF1 gene, results from an A to C substitution at nucleotide position 8222. The tyrosine at codon 2741 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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