ClinVar Miner

Submissions for variant NM_003235.5(TG):c.1021G>C (p.Ala341Pro)

gnomAD frequency: 0.00009  dbSNP: rs759789389
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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 RCV000895860 SCV001039926 likely benign not provided 2024-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004555603 SCV004738712 likely benign TG-related disorder 2023-12-27 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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