ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) (rs397515156)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362788 SCV001558824 uncertain significance Tuberous sclerosis 2 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 984 of the TSC2 protein (p.Glu984Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autism spectrum disorder (PMID: 23514105). ClinVar contains an entry for this variant (Variation ID: 65212). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000055430 SCV000083651 not provided Autism spectrum disorder no assertion provided curation

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