ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly)

gnomAD frequency: 0.00001  dbSNP: rs1248855623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038396 SCV001201863 benign Tuberous sclerosis 2 2023-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307814 SCV004001450 likely benign Hereditary cancer-predisposing syndrome 2023-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Neuberg Centre For Genomic Medicine, NCGM RCV001038396 SCV005382424 uncertain significance Tuberous sclerosis 2 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.4279A>G (p.Ser1427Gly) variant in TSC2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser1427Gly variant is present with allele frequency of 0.001% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Uncertain Significance. The reference amino acid of p.Ser1427Gly in TSC2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 1427 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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