ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.466C>T (p.Arg156Trp) (rs768360710)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802353 SCV000942179 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 156 of the MAX protein (p.Arg156Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs768360710, ExAC 0.01%). This variant has not been reported in the literature in individuals with MAX-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV001022874 SCV001184659 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing The p.R156W variant (also known as c.466C>T), located in coding exon 5 of the MAX gene, results from a C to T substitution at nucleotide position 466. The arginine at codon 156 is replaced by tryptophan, an amino acid with dissimilar 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.
Baylor Genetics RCV001292850 SCV001481528 uncertain significance Pheochromocytoma 2020-11-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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