ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)

gnomAD frequency: 0.00001  dbSNP: rs984306144
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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 RCV000815042 SCV000955483 likely benign Tuberous sclerosis 1 2024-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363122 SCV002666857 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-02 criteria provided, single submitter clinical testing The p.D24N variant (also known as c.70G>A), located in coding exon 1 of the TSC1 gene, results from a G to A substitution at nucleotide position 70. The aspartic acid at codon 24 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is 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.
Fulgent Genetics, Fulgent Genetics RCV002495148 SCV002777061 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-02-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141835 SCV003821600 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461229 SCV004204472 uncertain significance Isolated focal cortical dysplasia type II 2023-06-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001770 SCV004840578 uncertain significance Tuberous sclerosis syndrome 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 24 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/31408 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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