ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)

gnomAD frequency: 0.00002  dbSNP: rs559727962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644222 SCV000765913 likely benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017006 SCV001178026 benign Hereditary cancer-predisposing syndrome 2022-09-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV000644222 SCV002041121 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411522 SCV004113566 uncertain significance TSC2-related condition 2023-02-28 criteria provided, single submitter clinical testing The TSC2 c.1015G>A variant is predicted to result in the amino acid substitution p.Val339Ile. To our knowledge, this variant has not been reported in the literature in association with TSC2-related disease. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2110710-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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