ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) (rs765695557)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081666 SCV000284672 likely benign Tuberous sclerosis 1 2020-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726384 SCV000344266 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000407254 SCV000730258 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV001010703 SCV001170936 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-18 criteria provided, single submitter clinical testing The p.D426Y variant (also known as c.1276G>T), located in coding exon 11 of the TSC1 gene, results from a G to T substitution at nucleotide position 1276. The aspartic acid at codon 426 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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