ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2975+4G>C

dbSNP: rs1057521710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441290 SCV000524145 likely benign not specified 2016-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001231820 SCV001404352 likely benign Tuberous sclerosis 1 2024-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001231820 SCV002040026 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436286 SCV002746202 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-17 criteria provided, single submitter clinical testing The c.2975+4G>C intronic variant results from a G to C substitution 4 nucleotides after coding exon 20 in the TSC1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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