ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.514G>A (p.Val172Met) (rs952813051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474318 SCV000552348 uncertain significance Tuberous sclerosis 1 2018-06-18 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 172 of the TSC1 protein (p.Val172Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TSC1-related disease. ClinVar contains an entry for this variant (Variation ID: 411271). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000571730 SCV000675446 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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