ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1113C>A (p.His371Gln) (rs771217333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475917 SCV000552334 uncertain significance Tuberous sclerosis 1 2019-09-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 371 of the TSC1 protein (p.His371Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs771217333, ExAC 0.001%). This variant has not been reported in the literature in individuals with TSC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV001017361 SCV001178435 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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