ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) (rs397515296)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122208 SCV000515654 likely benign not specified 2016-11-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001086928 SCV000544347 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561143 SCV000675490 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Other data supporting benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
CeGaT Praxis fuer Humangenetik Tuebingen RCV000464888 SCV001150696 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000122208 SCV001339170 uncertain significance not specified 2020-03-26 criteria provided, single submitter clinical testing Variant summary: TSC2 c.1820C>T (p.Ala607Val) results in a non-conservative amino acid change located in the Tuberin-type domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 250358 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TSC2 causing Tuberous Sclerosis Complex (4e-05 vs 6.9e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1820C>T in individuals affected with Tuberous Sclerosis Complex and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, two classify as likely benign while two classify as VUS. Based on the evidence outlined above, the variant was classified as uncertain significance.
ITMI RCV000122208 SCV000086429 not provided not specified 2013-09-19 no assertion provided reference population

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