ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.1357G>A (p.Glu453Lys)

gnomAD frequency: 0.00004  dbSNP: rs189270359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134287 SCV002456062 likely benign not provided 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681452 SCV005177769 uncertain significance Inborn genetic diseases 2024-05-28 criteria provided, single submitter clinical testing The c.1357G>A (p.E453K) alteration is located in exon 11 (coding exon 11) of the TONSL gene. This alteration results from a G to A substitution at nucleotide position 1357, causing the glutamic acid (E) at amino acid position 453 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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