ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.397G>A (p.Ala133Thr) (rs750459929)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227155 SCV000287377 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 133 of the MAX protein (p.Ala133Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs750459929, ExAC 0.006%). This variant has not been reported in the literature in individuals with MAX-related disease. ClinVar contains an entry for this variant (Variation ID: 239151). 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"). 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 RCV000567888 SCV000673601 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV001111565 SCV001269133 likely benign Pheochromocytoma 2017-06-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761172 SCV000891088 uncertain significance Retinoblastoma 2017-04-03 no assertion criteria provided clinical testing

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