ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.363C>G (p.Thr121=)

gnomAD frequency: 0.00008  dbSNP: rs749966154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653717 SCV000775607 benign Brown-Vialetto-van Laere syndrome 1 2024-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825830 SCV000967305 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr121Thr in exon 2 of SLC52A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.29% (32/10982) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs749966154).
Ambry Genetics RCV002458149 SCV002613732 likely benign Inborn genetic diseases 2019-07-11 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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