ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg)

dbSNP: rs727503470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001775443 SCV002012351 likely pathogenic Loeys-Dietz syndrome 1 2021-10-02 criteria provided, single submitter clinical testing It is not observed in the gnomAD v2.1.1 dataset (PM2). A different missense change at the same codon (p.Gly218Ser) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000488621.1, PM5). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.952, 3Cnet: 0.805, PP3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline

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