ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.4751A>T (p.Lys1584Met)

dbSNP: rs2152380313
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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 RCV002250843 SCV002520964 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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