ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)

dbSNP: rs397515110
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644174 SCV000765864 likely benign Tuberous sclerosis 2 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336202 SCV002643616 likely benign Hereditary cancer-predisposing syndrome 2023-09-22 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.
All of Us Research Program, National Institutes of Health RCV003996478 SCV004826212 uncertain significance Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007983 SCV005638952 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-03-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055361 SCV000083581 not provided Autism spectrum disorder no assertion provided curation
PreventionGenetics, part of Exact Sciences RCV004537241 SCV004712881 uncertain significance TSC2-related disorder 2023-11-18 no assertion criteria provided clinical testing The TSC2 c.5072T>C variant is predicted to result in the amino acid substitution p.Met1691Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2138052-T-C?dataset=gnomad_r2_1) and has conflicting interpretations of pathogenicity in ClinVar ranging from likely benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/65146/). 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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