ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)

gnomAD frequency: 0.00003  dbSNP: rs991714565
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802473 SCV000942306 benign Tuberous sclerosis 2 2023-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013973 SCV001174622 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-06 criteria provided, single submitter clinical testing The p.S664F variant (also known as c.1991C>T), located in coding exon 18 of the TSC2 gene, results from a C to T substitution at nucleotide position 1991. The serine at codon 664 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome-Nilou Lab RCV000802473 SCV002040662 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV004588264 SCV005080749 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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