ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)

gnomAD frequency: 0.00001  dbSNP: rs140526185
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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 RCV000469868 SCV000544505 benign Tuberous sclerosis 2 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000497871 SCV000590651 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000469868 SCV002040887 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348294 SCV002646732 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-03 criteria provided, single submitter clinical testing The p.I1741V variant (also known as c.5221A>G), located in coding exon 40 of the TSC2 gene, results from an A to G substitution at nucleotide position 5221. The isoleucine at codon 1741 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003463866 SCV004205062 uncertain significance Isolated focal cortical dysplasia type II 2023-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010351 SCV005638959 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-06-04 criteria provided, single submitter clinical testing

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