ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.357C>A (p.Asp119Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470054 SCV004191938 uncertain significance Pheochromocytoma 2023-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364776 SCV005018641 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-09 criteria provided, single submitter clinical testing The p.D119E variant (also known as c.357C>A), located in coding exon 5 of the MAX gene, results from a C to A substitution at nucleotide position 357. The aspartic acid at codon 119 is replaced by glutamic acid, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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