ClinVar Miner

Submissions for variant NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)

gnomAD frequency: 0.00067  dbSNP: rs144290224
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001280774 SCV000535520 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Invitae RCV000542021 SCV000652650 likely benign Brown-Vialetto-van Laere syndrome 2 2024-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000432402 SCV000967301 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu374Leu in exon 4 of SLC52A2: 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 0.12% (76/63972) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs144290224).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280774 SCV001468097 uncertain significance not provided 2020-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436356 SCV002751986 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.
CeGaT Center for Human Genetics Tuebingen RCV001280774 SCV003917637 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SLC52A2: BP4

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