ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) (rs751125011)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461460 SCV000552329 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719962 SCV000850836 likely benign History of neurodevelopmental disorder 2017-02-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Integrated Genetics/Laboratory Corporation of America RCV001174799 SCV001338145 likely benign not specified 2020-02-10 criteria provided, single submitter clinical testing Variant summary: TSC1 c.1585G>A (p.Ala529Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251336 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1585G>A in individuals affected with Tuberous Sclerosis Complex and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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