ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.341A>C (p.Asn114Thr) (rs772912674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562371 SCV000664519 likely benign Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Intact protein function observed in appropriate functional assay(s)
Invitae RCV000233307 SCV000287376 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 114 of the MAX protein (p.Asn114Thr). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and threonine. This variant is present in population databases (rs772912674, ExAC 0.004%) This variant has been reported in an individual with isolated paraganglioma (PMID: 26070438). This variant is also known as p.N105T in the literature. ClinVar contains an entry for this variant (Variation ID: 239150). An experimental study has shown that this variant is able to repress MYC-dependent transcription similar to that of the wild-type protein (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.

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