ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.396T>A (p.Gly132=)

dbSNP: rs397516844
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Total submissions: 4
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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 RCV000037752 SCV000061414 likely benign not specified 2012-08-21 criteria provided, single submitter clinical testing Gly132Gly in exon 2 of TMPO: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Gly132Gly in exon 2 of TMPO (allele frequency = n/a)
GeneDx RCV000037752 SCV000514910 benign not specified 2016-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000475290 SCV000561631 benign Loeys-Dietz syndrome 2 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000037752 SCV003993353 likely benign not specified 2023-04-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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