ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)

gnomAD frequency: 0.00001  dbSNP: rs755177576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644170 SCV000765860 likely benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022839 SCV001184620 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-24 criteria provided, single submitter clinical testing The p.Y155C variant (also known as c.464A>G), located in coding exon 4 of the TSC2 gene, results from an A to G substitution at nucleotide position 464. The tyrosine at codon 155 is replaced by cysteine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000644170 SCV002041066 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004007 SCV004816963 uncertain significance Tuberous sclerosis syndrome 2024-01-03 criteria provided, single submitter clinical testing This missense variant replaces tyrosine with cysteine at codon 155 of the TSC2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 3/251480 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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