ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)

gnomAD frequency: 0.00003  dbSNP: rs1200837034
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567505 SCV000675702 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-13 criteria provided, single submitter clinical testing The p.N1681D variant (also known as c.5041A>G), located in coding exon 38 of the TSC2 gene, results from an A to G substitution at nucleotide position 5041. The asparagine at codon 1681 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001065808 SCV001230792 benign Tuberous sclerosis 2 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001764691 SCV002000658 uncertain significance not provided 2021-04-26 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
Genome-Nilou Lab RCV001065808 SCV002040866 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465277 SCV004206846 uncertain significance Isolated focal cortical dysplasia type II 2023-09-13 criteria provided, single submitter clinical testing

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