ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-5C>A

gnomAD frequency: 0.00003  dbSNP: rs775534948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699636 SCV000828356 likely benign Tuberous sclerosis 2 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334342 SCV002644895 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-09 criteria provided, single submitter clinical testing The c.5161-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 40 in the TSC2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003231593 SCV003929545 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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