ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs) (rs118203509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814745 SCV000955167 pathogenic Tuberous sclerosis 1 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg424Asnfs*17) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with tuberous sclerosis (PMID: 10533069). It is also known as 1270_1271delAG in the literature. ClinVar contains an entry for this variant (Variation ID: 48756). Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042003 SCV000065785 not provided Tuberous sclerosis syndrome no assertion provided curation

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