ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2545+10C>T

gnomAD frequency: 0.00004  dbSNP: rs45517241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876274 SCV001018830 likely benign Tuberous sclerosis 2 2024-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526605 SCV005040338 likely benign not specified 2024-03-13 criteria provided, single submitter clinical testing Variant summary: TSC2 c.2545+10C>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1e-05 in 1601716 control chromosomes (gnomAD v4). This frequency is not significantly higher than estimated for a pathogenic variant in TSC2 causing Tuberous Sclerosis Complex (1e-05 vs 6.9e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2545+10C>T in individuals affected with Tuberous Sclerosis Complex and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 49625). Based on the evidence outlined above, the variant was classified as likely benign.
Tuberous sclerosis database (TSC2) RCV000042887 SCV000066683 not provided Tuberous sclerosis syndrome no assertion provided curation
PreventionGenetics, part of Exact Sciences RCV004537171 SCV004712446 likely benign TSC2-related disorder 2023-02-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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