ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) (rs45509392)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000034648 SCV000243554 benign not provided 2020-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26332594, 16981987, 10570911, 25637381, 17304050, 22703879)
Invitae RCV000989423 SCV000556543 benign Tuberous sclerosis 2 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562486 SCV000675487 likely benign Hereditary cancer-predisposing syndrome 2018-06-06 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other data supporting benign classification
Mendelics RCV000989423 SCV001139746 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286728 SCV001473342 uncertain significance none provided 2020-01-24 criteria provided, single submitter clinical testing The TSC2 c.1939G>A: p.Asp647Asn variant (rs45509392) was reported to co-occur with another TSC2 variant (His137Arg) in an individual with TSC (Zhang 1999). The p.Asp647Asn variant is also reported in the ClinVar database (Variation ID: 41731). It is found in the general population with an overall allele frequency of 0.03% (97/281556 alleles), with an increased frequency of 0.1% in the Finnish population (Genome Aggregation Database). The aspartate at codon 647 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of this variant is uncertain at this time. REFERENCES Zhang H et al. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. J Hum Genet. 1999;44(6):391-6.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034648 SCV000043531 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2) RCV000054861 SCV000067267 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000054861 SCV000190672 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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