ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile)

dbSNP: rs548002938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012848 SCV001173356 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-02 criteria provided, single submitter clinical testing The p.T574I variant (also known as c.1721C>T), located in coding exon 13 of the TSC1 gene, results from a C to T substitution at nucleotide position 1721. The threonine at codon 574 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Invitae RCV001049618 SCV001213677 likely benign Tuberous sclerosis 1 2023-11-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001049618 SCV002041419 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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