ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.425C>T (p.Ser142Leu) (rs760147253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473532 SCV000541540 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-05-12 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 142 of the MAX protein (p.Ser142Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs760147253, ExAC 0.003%). This variant has been reported in individuals affected with pheochromocytomas and paragangliomas (PMID: 21685915, 23666964, 26269449). ClinVar contains an entry for this variant (Variation ID: 404109). An in vitro experimental study has shown that this variant preserved the ability of the MAX protein to repress MYC-dependent transcription from E-box elements, and a luciferase reporter assay shows relative activity similar to wild-type (PMID: 26070438). 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 RCV001022163 SCV001183864 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-23 criteria provided, single submitter clinical testing Insufficient evidence

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