ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) (rs118203468)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432455 SCV000520927 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TSC1 gene. The c.913 G>A variant in the TSC1 gene has been reported previously in association with tuberous sclerosis complex (Au et al., 2007; TSC1 LOVD database). Functional studies demonstrate that the c.913 G>A (p.G305R) missense variant does not affect TSC1 function; but several splice prediction models predict that the c.913 G>A splice site variant destroys the natural donor site for exon 9 and leads to abnormal gene splicing (Nellist et al., 2009; Hoogeveen-Westerveld et at., 2011). However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.913 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Tuberous sclerosis database (TSC1) RCV000042380 SCV000066169 not provided Tuberous sclerosis syndrome no assertion provided curation

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