ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) (rs397515167)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166370 SCV000217160 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Athena Diagnostics Inc RCV000518605 SCV000615911 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000813618 SCV000953985 uncertain significance Tuberous sclerosis 2 2018-08-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1500 of the TSC2 protein (p.Val1500Met). The valine residue is highly 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 been observed in an individual with symptoms of tuberous sclerosis complex (PMID: 22903760). It has also been observed in an individual who reportedly inherited this variant from an unaffected parent in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65229). Experimental studies have shown that this missense change does not affect TSC2 protein function (PMID: 22903760). 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) RCV000055449 SCV000083670 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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