ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) (rs878854104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230305 SCV000285389 uncertain significance Tuberous sclerosis 2 2018-05-22 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1358 of the TSC2 protein (p.Pro1358Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 238043). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000399172 SCV000395643 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing

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