ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5074T>A (p.Tyr1692Asn)

dbSNP: rs1597829956
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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 RCV002319390 SCV001185288 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing The p.Y1671N variant (also known as c.5011T>A), located in coding exon 36 of the NF1 gene, results from a T to A substitution at nucleotide position 5011. The tyrosine at codon 1671 is replaced by asparagine, 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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