ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.403G>A (p.Asp135Asn)

gnomAD frequency: 0.00002  dbSNP: rs201312694
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574758 SCV000673608 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-16 criteria provided, single submitter clinical testing The p.D135N variant (also known as c.403G>A), located in coding exon 5 of the MAX gene, results from a G to A substitution at nucleotide position 403. The aspartic acid at codon 135 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001042399 SCV001206077 uncertain significance Hereditary pheochromocytoma-paraganglioma 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 135 of the MAX protein (p.Asp135Asn). This variant is present in population databases (rs201312694, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MAX-related conditions. ClinVar contains an entry for this variant (Variation ID: 485704). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt MAX function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004569274 SCV005060753 uncertain significance Pheochromocytoma 2024-02-25 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.