ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.544T>G (p.Tyr182Asp)

dbSNP: rs1597643876
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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 RCV002319635 SCV001186091 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-10-04 criteria provided, single submitter clinical testing The p.Y182D variant (also known as c.544T>G), located in coding exon 5 of the NF1 gene, results from a T to G substitution at nucleotide position 544. The tyrosine at codon 182 is replaced by aspartic acid, an amino acid with highly 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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