ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7808T>C (p.Val2603Ala)

dbSNP: rs1597866454
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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 RCV002427472 SCV001189225 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-19 criteria provided, single submitter clinical testing The p.V2582A variant (also known as c.7745T>C), located in coding exon 52 of the NF1 gene, results from a T to C substitution at nucleotide position 7745. The valine at codon 2582 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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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