ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.671T>G (p.Met224Arg) (rs118203426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005411 SCV001373859 likely pathogenic Tuberous sclerosis 1 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 224 of the TSC1 protein (p.Met224Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families affected with tuberous sclerosis complex (PMID: 18830229, Invitae). ClinVar contains an entry for this variant (Variation ID: 5104). This variant has been reported to affect TSC1 protein function (PMID: 18830229, 21309039, 20547222). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000005411 SCV000025593 pathogenic Tuberous sclerosis 1 2009-03-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC1) RCV000042336 SCV000066125 not provided Tuberous sclerosis syndrome no assertion provided curation

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