ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.299G>A (p.Arg100His)

gnomAD frequency: 0.00001  dbSNP: rs776978293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810157 SCV000950348 uncertain significance Hereditary pheochromocytoma-paraganglioma 2022-03-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 654236). This variant has not been reported in the literature in individuals affected with MAX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 100 of the MAX protein (p.Arg100His).
Ambry Genetics RCV001017891 SCV001179055 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-03 criteria provided, single submitter clinical testing The p.R100H variant (also known as c.299G>A), located in coding exon 5 of the MAX gene, results from a G to A substitution at nucleotide position 299. The arginine at codon 100 is replaced by histidine, an amino acid with highly similar 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 RCV003467436 SCV004191936 uncertain significance Pheochromocytoma 2023-08-21 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000810157 SCV001749447 not provided Hereditary pheochromocytoma-paraganglioma no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-11-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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