ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)

gnomAD frequency: 0.00011  dbSNP: rs45514391
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697067 SCV000715551 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644318 SCV000766011 benign Tuberous sclerosis 2 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022730 SCV001184500 likely benign Hereditary cancer-predisposing syndrome 2021-08-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000644318 SCV002040209 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537169 SCV004114056 uncertain significance TSC2-related disorder 2022-10-17 criteria provided, single submitter clinical testing The TSC2 c.4579T>C variant is predicted to result in the amino acid substitution p.Phe1527Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2135240-T-C) and has conflicting interpretations of benign, likely benign, and uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/49473/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Myriad Genetics, Inc. RCV000644318 SCV005404736 likely benign Tuberous sclerosis 2 2024-08-23 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Tuberous sclerosis database (TSC2) RCV000042733 SCV000066528 not provided Tuberous sclerosis syndrome no assertion provided curation

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