ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.737+1G>A (rs118203438)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189839 SCV000243492 pathogenic not provided 2014-12-23 criteria provided, single submitter clinical testing c.737+1 G>A: IVS8+1 G>A in intron 8 of the TSC1 gene (NM_000368.4). The c.737+1 G>A splice site mutation in the TSC1 gene has been previously reported in association with tuberous sclerosis (Mayer et al., 1999; TSC1 LOVD). This mutation destroys the canonical splice donor site in intron 8, and is expected to cause abnormal gene splicing. Therefore, the presence of c.737+1 G>A is consistent with a diagnosis of tuberous sclerosis. The variant is found in TUBSC-EPIV2-1 panel(s).
Athena Diagnostics Inc RCV000189839 SCV000844554 pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042346 SCV000066135 not provided Tuberous sclerosis syndrome no assertion provided curation

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