ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del) (rs137854331)

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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 RCV000201210 SCV000255905 pathogenic Tuberous sclerosis 2 2015-02-25 criteria provided, single submitter clinical testing
Invitae RCV000201210 SCV001222548 likely pathogenic Tuberous sclerosis 2 2019-03-21 criteria provided, single submitter clinical testing This variant, c.4842_4844del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Ile1614del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with tuberous sclerosis complex (PMID: 9463313, 22748302, LOVD, Invitae). ClinVar contains an entry for this variant (Variation ID: 49325). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
Tuberous sclerosis database (TSC2) RCV000042585 SCV000066379 not provided Tuberous sclerosis syndrome no assertion provided curation

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