ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.941C>T (p.Thr314Met) (rs373454700)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130736 SCV000185627 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000726223 SCV000243522 uncertain significance not provided 2014-10-24 criteria provided, single submitter clinical testing p.Thr314Met (ACG>ATG): c.941 C>T in exon 10 of the TSC1 gene (NM_000368.4). The T314M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The T314M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the R314M variant is damaging to the protein structure/function. Additionally, the vast majority of TSC1 mutations result in protein truncation, while missense mutations have been reported only rarely (Northrup et al., 2011; Au et al., 2007). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726223 SCV000342999 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Invitae RCV000726223 SCV000641680 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764813 SCV000895964 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 2018-10-31 criteria provided, single submitter clinical testing

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