ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.1736G>A (p.Arg579His)

gnomAD frequency: 0.00069  dbSNP: rs567826472
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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 RCV001940665 SCV002193775 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004970525 SCV005526483 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.1736G>A (p.R579H) alteration is located in exon 15 (coding exon 15) of the TONSL gene. This alteration results from a G to A substitution at nucleotide position 1736, causing the arginine (R) at amino acid position 579 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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