ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1504G>T (p.Val502Phe)

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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 RCV002389599 SCV002700850 uncertain significance Inborn genetic diseases 2021-10-08 criteria provided, single submitter clinical testing The p.V496F variant (also known as c.1486G>T), located in coding exon 12 of the NTRK1 gene, results from a G to T substitution at nucleotide position 1486. The valine at codon 496 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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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