ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1773A>G (p.Thr591=)

dbSNP: rs727503345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151562 SCV000199708 likely benign not specified 2014-09-12 criteria provided, single submitter clinical testing Thr591Thr in exon 13 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Ambry Genetics RCV002408671 SCV002716862 likely benign Cardiovascular phenotype 2020-03-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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