ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1270G>A (p.Val424Ile)

dbSNP: rs753008616
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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 RCV001808005 SCV002058355 uncertain significance Pierpont syndrome 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3CNET: 0.863, PP3_P). A missense variant is a common mechanism associated with Pierpont syndrome (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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