ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)

dbSNP: rs1716484744
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio Extremeño de Salud, Hospital de Mérida RCV001175162 SCV001298078 likely pathogenic Pierpont syndrome 2020-04-01 criteria provided, single submitter clinical testing The G237D variant has been discovered in a boy with MR and characteristics of Pierpont Syndrome. The mutation is a missense "de novo" mutation as all the mutations described previously in this condition, and affects a highly conserved residue in one of the eight conserved WD domains of the protein. It is not present in any of the databases consulted (1000G, esp6500, ExAC, gnomAD, Kaviar, dbSNP, HRC). The in silico algortihms used to test pathogenicity, (SIFT, PolyPhen2, LRT; Mutation Taster, Mutation Assesor) classified the variant as deleterious, and the scores for CADD, and DANN were 33 and 0.999 respectively. Also, it meets the criteria from ACMG to be classified as likely pathogenic.

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