ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)

gnomAD frequency: 0.00001  dbSNP: rs1190158836
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696894 SCV000825475 benign Tuberous sclerosis 2 2023-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001564684 SCV001787883 likely benign not provided 2019-10-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24755471)
Genome-Nilou Lab RCV000696894 SCV002041195 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255512 SCV002531090 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-16 criteria provided, single submitter curation
Preventiongenetics, part of Exact Sciences RCV003420235 SCV004116380 uncertain significance TSC2-related condition 2022-12-08 criteria provided, single submitter clinical testing The TSC2 c.256G>A variant is predicted to result in the amino acid substitution p.Ala86Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2103373-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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