ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)

dbSNP: rs45464093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004998141 SCV005620616 likely pathogenic not provided 2024-01-22 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 appears to occur de novo in this individual in at least one individual tested at Athena Diagnostics with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is damaging.
Tuberous sclerosis database (TSC2) RCV000042862 SCV000066658 not provided Tuberous sclerosis syndrome no assertion provided curation

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