ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.346C>T (p.Pro116Ser)

dbSNP: rs1186625283
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020377 SCV001181850 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-15 criteria provided, single submitter clinical testing The p.P116S variant (also known as c.346C>T), located in coding exon 5 of the MAX gene, results from a C to T substitution at nucleotide position 346. The proline at codon 116 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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.
Genetic Services Laboratory, University of Chicago RCV001819732 SCV002071312 uncertain significance not specified 2019-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517294 SCV004304561 uncertain significance Hereditary pheochromocytoma-paraganglioma 2025-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 116 of the MAX protein (p.Pro116Ser). This variant is not present in population databases (gnomAD no frequency). 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: 823808). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004569991 SCV005060755 uncertain significance Pheochromocytoma 2023-11-20 criteria provided, single submitter clinical testing

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