ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) (rs137854298)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201010 SCV000255871 likely pathogenic Tuberous sclerosis 2 2015-08-27 criteria provided, single submitter clinical testing
Invitae RCV000201010 SCV000962761 uncertain significance Tuberous sclerosis 2 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 410 of the TSC2 protein (p.Leu410Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with tuberous sclerosis complex (PMID: 22903760). ClinVar contains an entry for this variant (Variation ID: 49680). Experimental studies have shown that this missense change affects the activity of the TSC1–TSC2 protein complex (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) RCV000042942 SCV000066739 not provided Tuberous sclerosis syndrome no assertion provided curation

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