ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.2677G>A (p.Ala893Thr)

gnomAD frequency: 0.00178  dbSNP: rs148167168
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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 RCV002194866 SCV002357386 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004970844 SCV005520049 uncertain significance Inborn genetic diseases 2024-10-20 criteria provided, single submitter clinical testing The c.2677G>A (p.A893T) alteration is located in exon 17 (coding exon 17) of the TONSL gene. This alteration results from a G to A substitution at nucleotide position 2677, causing the alanine (A) at amino acid position 893 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003923504 SCV004743802 likely benign TONSL-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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