ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1332A>G (p.Ser444=) (rs773003016)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574822 SCV000675361 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000189846 SCV000243499 uncertain significance not provided 2018-09-28 criteria provided, single submitter clinical testing p.Ser444Ser (TCA>TCG): c.1332 A>G in exon 13 of the TSC1 gene (NM_000368.3). The c.1332 A>G splice variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Some in silico splice algorithms predict c.1332 A>G may damage or even destroy the natural donor site and possibly create a cryptic donor site, which may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether c.1332 A>G is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV000229463 SCV000284673 likely benign Tuberous sclerosis 1 2017-10-20 criteria provided, single submitter clinical testing

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