ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)

dbSNP: rs779369226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690055 SCV000817732 likely benign Tuberous sclerosis 1 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163141 SCV003911758 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-04 criteria provided, single submitter clinical testing The p.A1072V variant (also known as c.3215C>T), located in coding exon 21 of the TSC1 gene, results from a C to T substitution at nucleotide position 3215. The alanine at codon 1072 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV003999538 SCV004827486 uncertain significance Tuberous sclerosis syndrome 2023-05-31 criteria provided, single submitter clinical testing

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