ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) (rs796053462)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189860 SCV000243513 uncertain significance not provided 2012-08-07 criteria provided, single submitter clinical testing p.Glu1044Lys (GAG>AAG):c.3130 G>A in exon 23 of the TSC1 gene (NM_000368.3). The Glu1044Lys missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Glu1044Lys in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a negatively charged Glutamic acid residue is replaced by a positively charged Lysine residue. However, it alters a position in the protein that is not conserved, and multiple in silico algorithms predict Glu1044Lys is likely not pathogenic. 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 Glu1044Lys is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV001079866 SCV001003157 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing

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