ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)

gnomAD frequency: 0.00001  dbSNP: rs1163037065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698973 SCV000827664 likely benign Tuberous sclerosis 2 2022-09-12 criteria provided, single submitter clinical testing
GeneDx RCV001771980 SCV001994666 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000698973 SCV002040865 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334340 SCV002641798 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-29 criteria provided, single submitter clinical testing The p.D1677N variant (also known as c.5029G>A), located in coding exon 38 of the TSC2 gene, results from a G to A substitution at nucleotide position 5029. The aspartic acid at codon 1677 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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.

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