ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.80C>T (p.Ser27Leu)

gnomAD frequency: 0.00036  dbSNP: rs191573607
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001559905 SCV001782223 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001559905 SCV002392433 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568395 SCV003572873 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.80C>T (p.S27L) alteration is located in exon 1 (coding exon 1) of the TK2 gene. This alteration results from a C to T substitution at nucleotide position 80, causing the serine (S) at amino acid position 27 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001559905 SCV003825375 uncertain significance not provided 2019-10-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001559905 SCV005218559 likely benign not provided criteria provided, single submitter not provided
GenomeConnect - Brain Gene Registry RCV001559905 SCV004032171 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-05-2020 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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