ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2363T>A (p.Val788Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002450372 SCV002733785 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing The p.V806E variant (also known as c.2417T>A), located in coding exon 9 of the MET gene, results from a T to A substitution at nucleotide position 2417. The valine at codon 806 is replaced by glutamic acid, 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.
Baylor Genetics RCV004571141 SCV005057907 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-11-08 criteria provided, single submitter clinical testing

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