ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro)

dbSNP: rs137854405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV003482276 SCV000615895 pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 31799751)

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